Genetic Laboratory
Our genetic laboratory offers genetic consulting services together with a wide range of cytogenetic and molecular genetic testing. The quality of the provided tests and the fulfilment of strict criteria according to international standards is guaranteed by the Certificate of Accreditation and the inclusion of the laboratory into the National Registry of Accredited Subjects, which is managed by the Czech Institute for Accreditation (ČIA). For many tests, GENvia, s.r.o. is the only accredited laboratory in Prague. The Accreditation guarantees the highest quality of testing and is valid throughout the entire European Union.
Types of testing
A brief overview of the types of testing follows (click on the title for details):
Description of the examination
The examination is aimed at detecting a microdeletion (missing a small part) of the Y chromosome in the AZF region, which is often associated with male infertility.
The frequency of microdeletion in the AZF region is estimated to be 1/10,000 male births. The AZF region is divided into three subregions designated AZFa, AZFb and AZFc. Genes found in this region are involved in the process of spermatogenesis and are essential for male reproduction. Individual subregions are associated with a certain phase of spermatogenesis. If a microdeletion occurs in the AZFb and AZFc subregions, its phenotypic expression varies from azoospermia to oligozoospermia. Microdeletions in the AZFa subregion are characterized in most cases by the complete absence of spermatogonia (Sertoli cell-only syndrome), which manifests itself as azoospermia in the ejaculate.
Who is the examination intended for?
Males with impaired fertility with severe oligozoospermia or azoospermia
Message delivery date
10 working days
Price
CZK 4,000
Description of the examination
We offer an examination of the 50 most common mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, supplemented by the detection of extensive deletions and duplications of the CFTR gene.
Cystic fibrosis is an inherited disease with a grave prognosis. It ranks among the most common autosomal recessive hereditary diseases, the incidence in the Czech Republic is 1/4,500, while every 26th individual is a carrier of a mutation in the CFTR gene. Cystic fibrosis is a disease that is manifested by the formation of very thick mucus in the respiratory and digestive system. As a result, patients with cystic fibrosis suffer from persistent breathing difficulties, recurrent and chronic respiratory tract infections, digestive problems and general failure of the organism. Males experience infertility with azoospermia as a result of CBAVD (Congenital Bilateral Aplasia of Vas Deferens = they do not have a vas deferens), affected women also have significantly reduced fertility. Very salty sweat may be noted in young children (“salty children”).
The cause of the disease is a mutation in the CFTR gene located on chromosome number 7. The severity of the disease depends on the specific mutation of the CFTR gene, in exceptional cases the disease may not be clinically significant. Early diagnosis of this disease, i.e. within two months of birth, will significantly affect the treatment and related prognosis of the disease.
The examination of the 50 most common mutations of the CFTR gene that we offer covers approximately 92% of all mutations of the CFTR gene in the Czech population. In addition, in the laboratory GENvia, s.r.o. as standard, we supplement the examination with the detection of CFTR gene rearrangements using MLPA (multiple ligation-dependent probe amplification) technology, which captures large-scale deletions (losses) and duplications (doubling) of selected areas of the CFTR gene.
Who is the examination intended for?
For patients with a persistent cough, frequent inflammation of the sinuses and airways
Children with disabilities
For newborns with bowel obstruction and significantly salty sweat
For couples with fertility disorders
Partners of mutation carriers before or during the planned pregnancy
Prenatal examination in a couple where both partners are carriers of the CFTR gene mutation
Prenatal diagnosis in fetuses with ultrasound findings suspicious for cystic fibrosis
Gamete donors to exclude transmission
Message delivery date
10 working days
Price
9,500 CZK
Description of the examination
Severe, congenital hearing disorders occur with an incidence of approximately 1/1,000 newborns. In at least 50%, the cause is genetic. 75% of congenital non-syndromic forms of hearing impairment or loss show autosomal recessive inheritance.
The most common cause of autosomal recessive non-syndromic congenital deafness is mutations in the GJB2 gene, which codes for the protein connexin 26. Mutations in the GJB2 gene are responsible for 20-30% of prelingual hearing losses. The estimated frequency of carriers in the Czech population is 1/49. Parents are typically healthy carriers of alleles with a 25% risk of both alleles being affected and therefore hearing impairment for the offspring. Familial occurrence can often be found in deaf partnerships or consanguineous relationships.
The examination of the GJB2 gene is performed in patients with suspected early, genetically determined hearing impairment and according to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP in all gamete donors. As a standard, it is investigated by direct sequencing using the Sanger method, which detects all variants in the coding region of the GJB2 gene. In addition to the coding region of the GJB2 gene, we also analyze the entire sequence of exon 1 and its flanking regions to capture pathogenic variants in the non-coding region of the GJB2 gene. The result is a comprehensive sequence analysis of the entire protein-coding region of the GJB2 gene and adjacent regulatory regions in exon 1 and nearby.
Who is the examination intended for?
Children to find out the cause of congenital prelingual hearing loss
Hearing relatives in families with a mutation in the GJB2 gene
To partners of GJB2 gene mutation carriers before planned pregnancy
To partners in a consanguineous union
Gamete donors
Message delivery date
10 working days
Price
9,000 CZK
Description of the examination
Fragile X syndrome is an X-linked inherited disease caused by a trinucleotide repeat expansion in the FMR1 gene. The phenotypic manifestation of the fragile X syndrome is a varying degree of mental retardation in association with dysmorphic features (high forehead, narrow, elongated face, prominent chin, large protruding ears, etc.). The manifestation of the phenotype is relatively non-specific and variable, especially in prepubertal boys, which leads to difficulties in clinical diagnosis. Also, girls as carriers of the full mutation can show varying degrees of mental retardation.
The variability of clinical manifestation is a consequence of the mitotic instability of the trinucleotide repeat region of the FMR1 gene and subsequent somatic mosaicism, where fully mutant and premutated alleles coexist.
A number of 6–44 repeats is considered normal, followed by a gray zone of 45–54 repeats, where carriers have healthy children, but there is a risk of an increase in the number of repeats and the appearance of a premutant or mutant allele in subsequent generations. A lower number of repetitions (55–200) is referred to as a so-called premutation. Carriers of the premutation are not affected by mental retardation, but men may develop tremor and ataxia syndrome (fragile X tremor/ataxia syndrome) associated with Parkinson’s disease and dementia in adulthood, and about 20% of female carriers of the premutation suffer from premature ovarian failure. A premutation in the gene is relatively unstable during gametogenesis or early embryogenesis, and therefore women with the premutation are at risk of having an offspring that expands the repeats into a full mutation. When expanded above 200 repeats (full mutation), the gene is inactivated and the phenotype typical of fragile X syndrome is fully developed.
Who is the examination intended for?
Individuals with mental retardation of varying degrees
Persons with dysmorphic features in the face with suspected fragile X syndrome
To persons with a positive family history
For women with premature ovarian failure
Message delivery date
10 working days
Price
CZK 8,000
Description of the examination
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by a defect in the SMN1 gene.
The SMN1 gene and its nearly identical copy, the SMN2 gene, are located on chromosome 5q13.2. The SMA disease is characterized by progressive symmetrical muscle weakness, manifested by significant muscle hypotonia, hypo- to areflexia of the limbs, breathing difficulties and muscle hypotrophy to atrophy. Based on clinical severity, they can be divided into 4 types. The incidence of the disease is around 1/10,000 births. The estimated frequency of carriers in European populations is 1/37 individuals. A total of 95% of SMA patients have a homozygous deletion of exon 7 of the SMN1 gene. The remaining 5% of patients are heterozygotes carrying a deletion of exon 7 of the SMN1 gene on one chromosome and a small pathogenic sequence variant on the other.
The SMN2 gene predominantly produces a transcript with excised exon 7, which translates into an unstable and non-functional protein. In addition to the transcript without exon 7, the SMN2 gene also produces a small amount of the full-length transcript and therefore a small amount of functional SMN2 protein. Thus, patients with multiple copies of SMN2 have milder SMA phenotypes.
We offer SMN1 exon 7 and 8 copy number testing for SMA carrier and SMA diagnosis. The examination is based on the principle of MLPA (multiple ligation-dependent probe amplification) and is designed to detect deletions and duplications of selected regions. This kit can also be used to detect the copy number of exon 7 and 8 of the SMN2 gene, as interpretive aids in determining the copy number of the SMN1 gene.
Who is the examination intended for?
Patients with a suspected diagnosis of SMA
Clients with a positive family history
Gamete donors
Message delivery date
10 working days
Price
7,500 CZK
Description of the examination
Examination of thrombophilic mutations is performed in patients with an increased tendency to blood clotting and venous thrombosis.
Venous thrombosis is a clinically serious disease with an incidence of 0.5–1.2/1,000 inhabitants. The causes contributing to the development of this disease include clinical factors (obesity, injuries, surgical procedures, medications, etc.) and genetic factors (mutations in the genes encoding factor C, protein S, antithrombin, prothrombin and factor V).
Thrombophilic mutations occur in approximately 8% of the population in the Czech population and are associated with the risk of acute stroke, myocardial infarction and pulmonary embolism. In gynecology and obstetrics, thrombophilic mutations increase the risk of certain serious conditions during pregnancy and childbirth, up to 8 times (e.g. repeated spontaneous abortions in the first trimester of pregnancy, placental abruption, intrauterine fetal growth retardation, etc.). In women with a thrombophilic mutation, the risk of thrombosis may be further increased by the use of hormonal contraception.
The most significant genetic factor is a variant in the factor V gene (Leiden mutation, G1691A). The heterozygous form of the Leiden mutation increases the risk of thrombosis 3-8 times, the homozygous form represents an 80-fold higher risk.
The second most common genetic factor associated with venous thrombosis is a mutation in the prothrombin gene (G20210A).
Other genetic factors include polymorphisms in the MTHFR gene (A1298C, C677T) involved in the development of homocystinuria and hyperhomocysteinemia and subsequent increased risk of atherosclerosis, venous and arterial thrombosis, myocardial infarction, and stroke. Pregnant women homozygous for the MTHFR gene variant have an increased risk of cleft birth defects, especially of the spine and central nervous system.
Furthermore, the 4G polymorphism in the promoter of the PAI-1 gene contributes to the increased risk, the presence of which together with any of the genetic factors described above increases the risk of thrombosis, which is associated with a higher risk of myocardial infarction and other acute coronary events.
We offer examination of the Leiden mutation in the gene for the coagulation factor Factor V (G1691A), mutation G20210A in the gene for prothrombin (gene for coagulation factor II), examination of polymorphisms C677T, A1298C of the MTHFR gene and polymorphism 4G in the promoter of the PAI-1 gene.
Who is the examination intended for?
Patients with a positive family history
Patients with repeated abortions
For women before planned hormonal stimulation
Message delivery date
10 working days
Price
CZK 1,200 for one option from the offered spectrum
Material for examination
The examination is performed on short-term (72 hours) cultured peripheral blood lymphocytes. Peripheral blood sampling is performed by a healthcare professional after consulting the client with a clinical geneticist.
Description of the examination
The karyotype examination is a basic cytogenetic examination. Cytogenetics is a branch of genetics that deals with the analysis of chromosomes. Chromosomes are structures of typical shape, size and number, carriers of genetic information stored in the nuclei of all cells. Each person has 23 pairs of chromosomes (a total of 46 chromosomes), one pair of chromosomes comes from the mother, the other from the father. During conception, 2 sex cells, an egg and a sperm, are joined, each of which carries 1 half of the chromosomal equipment of the future individual.
According to the size and characteristic banding of individual chromosomes, we can compile a so-called karyotype for each individual. A woman and a man have 22 pairs of identical chromosomes (autosomes) and 1 pair of sex chromosomes, the composition of which differs. A woman has 2 sex chromosomes X, a man has one sex chromosome X and one Y. The entry of a normal female karyotype is 46,XX, a normal male karyotype is 46,XY.
Changes in the number or structure of chromosomes (chromosome aberrations) can be observed microscopically. Chromosomes in the so-called metaphase, stained with G-striping, are analyzed. Numerical deviations of entire chromosomes or abnormalities in the structure of individual chromosomes such as deletions, duplications, inversions, insertions, translocations, etc. can be detected in the client’s genetic make-up. The examination provides complete information about the individual’s genetic make-up, but is limited by the size of the aberration of about 10 megabases.
Chromosomal aberrations are the cause of many clinical manifestations and syndromes and can cause congenital malformations, mental retardation, fertility disorders, etc. They are also part of the pathogenesis of cancer.
Message delivery date
15-20 working days / statim 7 working days
Price
6,500 CZK / statim 7,500 CZK
Description of the examination
An incorrect number of chromosomes (chromosomal aneuploidy) is one of the causes of embryo failure or miscarriage in the early stages of pregnancy. During assisted reproduction, the incorrect number of chromosomes of the embryo that was transferred to the mother’s uterus can be one of the many causes of IVF cycle failure. For couples with fertility problems undergoing treatment with assisted reproduction methods, genetic testing of the embryo can be offered before it is transferred to the uterus. The examination will make it possible to select promising embryos without an identifiable genetic abnormality and discard embryos with incorrect chromosomal makeup.
Preimplantation genetic testing enables genetic testing of embryos that are obtained by assisted reproduction methods, even before they are transferred to the uterus. From the embryos, one or two cells (blastomeres) obtained from the embryo on day 3 (72 hours) after fertilization or, more often, more cells obtained from the trophoectoderm of a 5-day-old blastocyst are taken. Cells of the future placenta, which are not crucial for the further development of the embryo, are biopsied. The collection of cells intended for genetic examination is carried out by an embryologist in vitro using micromanipulation techniques. The obtained cells are then sent to the laboratory for genetic examination and the embryo is frozen for possible transfer in one of the following cycles.
GENvia Laboratory, s.r.o. offers preimplantation genetic testing using “next generation sequencing” (NGS) technology. NGS technology ranks among the most modern approaches currently available in the field of preimplantation genetic testing. It provides a comprehensive, accurate and comprehensive screening of all 24 chromosomes of the examined material. DNA for preimplantation genetic screening can come from a blastomere biopsy of a three-day embryo or a trophoectoderm biopsy derived from a blastocyst. The technology is intended for the detection of aneuploidy of entire chromosomes. Based on the examination of numerical deviations of the entire chromosome set, it is possible to determine probably euploid embryos. Selected suitable, probably euploid embryos can then be used for transfer to the uterus. Choosing the right embryo for transfer can reduce the risk of an abnormal pregnancy, reduce the risk of miscarriage, increase the chance of successful implantation and thus increase the chance of success in in vitro fertilization and the birth of a healthy baby.
Who is the examination intended for?
To couples undergoing assisted reproduction in the following cases:
Higher age of the woman – over 35 years at the time of the expected birth
Repeated failures of previous cycles of assisted reproduction – at least 2 times
Repeated pregnancy losses after excluding other possible causes – at least 2 times
Numerical aberrations (eg 47,XXX, 47,XYY) and small mosaics (above 10%) of sex chromosomes detected from peripheral blood
Andrological factor (e.g. severe oligo-astheno-teratospermia) or use of sperm obtained by the MESA/TESE method in assisted reproduction
Birth or abortion of a child (fetus) with chromosomal aneuploidy
History of chemotherapy or radiotherapy in one or both partners
Message delivery date
20 working days
Price
upon inquiry
If indicated, other genetic tests can be offered
Description of the examination
We offer rapid prenatal testing of amniotic fluid, fetal blood or chorionic villi to detect the most common aneuploidy of chromosomes 13, 18, 21, X and Y.
The examination is always carried out as a priority with a guaranteed result within 48 hours.
Numerical deviations (aneuploidy) of chromosomes 13, 18, 21, X and Y make up the majority of chromosomal abnormalities responsible for the birth of an affected child. This is primarily an extra copy (trisomy) of chromosomes number 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome), X (XXX syndrome, XXY – Klinefelter syndrome) or a missing copy (monosomy) of chromosome X (Turner syndrome) ).
The examination is carried out based on the indication of a clinical geneticist. The collection of amniotic fluid, fetal blood or chorionic villi is performed by a specialist doctor. Collection of chorionic villi is usually performed from 11 to 15 weeks of pregnancy and collection of amniotic fluid from 16 to 21 weeks of pregnancy.
We use the standard method of quantitative fluorescent PCR (so-called amnioPCR), which enables rapid prenatal detection of the most common aneuploidies (chromosomes 13, 18, 21, X and Y) using highly polymorphic markers (short tandem repeats) specific for each chromosome. The examination is performed by amplifying DNA fragments isolated directly from fetal cells contained in amniotic fluid, fetal blood or chorionic biopsy. To exclude the influence of maternal DNA on the examination result, DNA isolated from a sample of the mother’s buccal mucosa is simultaneously processed and examined.
The method does not replace the determination of the karyotype, as it focuses on the most common aneuploidies of chromosomes 13, 18, 21, X and Y. The main advantage of the amnioPCR method is the time during which the examination result is available to the referring physician.
Who is the examination intended for?
Clients with a positive biochemical screening during pregnancy or when fetal abnormalities are detected during an ultrasound examination
Older pregnant clients
Clients carrying a genetic load in the family
Clients with multiple risk factors during pregnancy
Message delivery date
48 hours
Price
CZK 6,000
Description of the examination
We offer an examination of the 50 most common mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, supplemented by the detection of extensive deletions and duplications of the CFTR gene.
Cystic fibrosis is an inherited disease with a grave prognosis. It ranks among the most common autosomal recessive hereditary diseases, the incidence in the Czech Republic is 1/4,500, while every 26th individual is a carrier of a mutation in the CFTR gene. Cystic fibrosis is a disease that is manifested by the formation of very thick mucus in the respiratory and digestive system. As a result, patients with cystic fibrosis suffer from persistent breathing difficulties, recurrent and chronic respiratory tract infections, digestive problems and general failure of the organism. Males experience infertility with azoospermia as a result of CBAVD (Congenital Bilateral Aplasia of Vas Deferens = they do not have a vas deferens), affected women also have significantly reduced fertility. Very salty sweat may be noted in young children (“salty children”).
The cause of the disease is a mutation in the CFTR gene located on chromosome number 7. The severity of the disease depends on the specific mutation of the CFTR gene, in exceptional cases the disease may not be clinically significant. Early diagnosis of this disease, i.e. within two months of birth, will significantly affect the treatment and related prognosis of the disease.
The examination of the 50 most common mutations of the CFTR gene that we offer covers approximately 92% of all mutations of the CFTR gene in the Czech population. In addition, in the laboratory GENvia, s.r.o. as standard, we supplement the examination with the detection of CFTR gene rearrangements using MLPA (multiple ligation-dependent probe amplification) technology, which captures extensive deletions (losses) and duplications (doubling) of selected areas of the CFTR gene.
Who is the examination intended for?
For patients with persistent cough, frequent inflammation of the sinuses and respiratory tract
Children with disabilities
For newborns with bowel obstruction and significantly salty sweat
For couples with fertility disorders
Partners of mutation carriers before or during the planned pregnancy
Prenatal examination in a couple where both partners are carriers of the CFTR gene mutation
Prenatal diagnosis in fetuses with ultrasound findings suspicious for cystic fibrosis
Gamete donors to exclude transmission
Message delivery date
10 working days
Price
9,500 CZK
Description of the examination
We offer an examination of the entire protein-coding sequence of the DHCR7 gene.
Variants in the DHCR7 gene are associated with the development of Smith-Lemli-Opitz syndrome (SLOS). It is an autosomal recessive disease with manifestations of mental retardation, facial dysmorphism, syndactyly of the second or third finger, malformation of internal organs or holoprosencephaly. The disease can manifest itself prenatally, the suspicion is usually expressed on the basis of an ultrasound finding in the 21st week (less often already in the 1st trimester), and the finding can be a reason to terminate the pregnancy. Sometimes the disease manifests itself soon after birth, congenitally. SLOS is the third most common inherited metabolic disorder after cystic fibrosis and phenylketonuria. It occurs with a frequency of 1:20,000 to 1:40,000 and is more common in the European population than in the Asian or African population. In the Czech Republic, the reported frequency is 1:10,000. This means that the frequency of carriers is up to 2% of the population.
The main cause of SLOS development is variants in the DHCR7 gene, which codes for the 7-dehydrocholesterol reductase protein. The enzyme 7-dehydrocholesterol reductase is of catalytic importance in the final stage of cholesterol biosynthesis. Deficiency in the DHCR7 gene results in abnormally low activity of the encoded enzyme leading to abnormalities in cholesterol metabolism and the clinical manifestation of SLOS disease.
Mutations causing SLOS occur throughout the protein coding sequence of the DHCR7 gene, therefore the investigation is focused on the entire coding sequence of the causal gene by direct sequencing followed by analysis of all found sequence variants of the analyzed region. Subsequently, the examination is supplemented by the analysis of large gene rearrangements by the MLPA method, which captures duplications and deletions of the DHCR7 gene, which are associated with SLOS.
Who is the examination intended for?
Suspected SLOS prenatally and postnatally: microcephaly, facial dysmorphism, cleft palate, malformations of the heart, lungs, liver, pancreas, kidneys and adrenal glands, genital abnormalities, syndactyly of the second and third fingers, polydactyly
Message delivery date
10 working days
Price
25,000 CZK
Description of the examination
Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease caused by a defect in the SMN1 gene.
The SMN1 gene and its nearly identical copy, the SMN2 gene, are located on chromosome 5q13.2. The SMA disease is characterized by progressive symmetrical muscle weakness, manifested by significant muscle hypotonia, hypo- to areflexia of the limbs, breathing difficulties and muscle hypotrophy to atrophy. Based on clinical severity, they can be divided into 4 types. The incidence of the disease is around 1/10,000 births. The estimated frequency of carriers in European populations is 1/37 individuals. A total of 95% of SMA patients have a homozygous deletion of exon 7 of the SMN1 gene. The remaining 5% of patients are heterozygotes carrying a deletion of exon 7 of the SMN1 gene on one chromosome and a small pathogenic sequence variant on the other.
The SMN2 gene predominantly produces a transcript with excised exon 7, which translates into an unstable and non-functional protein. In addition to the transcript without exon 7, the SMN2 gene also produces a small amount of the full-length transcript and therefore a small amount of functional SMN2 protein. Thus, patients with multiple copies of SMN2 have milder SMA phenotypes.
We offer SMN1 exon 7 and 8 copy number testing for SMA carrier and SMA diagnosis. The examination is based on the principle of MLPA (multiple ligation-dependent probe amplification) and is designed to detect deletions and duplications of selected regions. This kit can also be used to detect the copy number of exon 7 and 8 of the SMN2 gene, as interpretive aids in determining the copy number of the SMN1 gene.
Who is the examination intended for?
Patients with a suspected diagnosis of SMA
Clients with a positive family history
Gamete donors
Message delivery date
10 working days
Price
7,500 CZK
Description of the examination
In the case of aborted fetuses, there is often a failure of tissue culture, which is caused by the death of cells and their inability to divide. Due to unsuccessful cultivation, a standard karyotype examination, i.e. a microscopic analysis of the entire chromosome set, is not possible. In these cases, it is advisable to choose, as the method of first choice, an alternative method of examining the most common aneuploidies found in aborted fetuses.
This method is an extended amnioPCR examination that targets the most frequently affected chromosomes, i.e. numerical deviations of chromosomes 13, 15, 16, 18, 21, 22, X and Y. Trisomy (genetic deviation in which a certain chromosome in the cell is three instead of the normal number of two) chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome) and X (XXX syndrome, XXY Klinefelter syndrome) often cause severe congenital developmental defects of the fetus, which are, however, compatible with life. Trisomy of chromosomes 15, 16, 22 and monosomy (the chromosome is represented in the cell in only one copy) of all the mentioned chromosomes (with the exception of chromosome X) cause defects incompatible with life, leading to pregnancy losses or death in the early postnatal stage.
The amnioPCR method (quantitative fluorescent PCR) enables rapid detection of the most common aneuploidies of selected chromosomes using highly polymorphic markers of the type of short tandem repeats, specific for each chromosome. The method does not replace a karyotype examination. However, it can also be used for samples where a standard examination cannot be guaranteed due to the possible failure of cell cultivation. The examination uses DNA isolated directly from the cells of the aborted tissue. The sample is taken under ultrasound control by professionally trained personnel at a specialized workplace. The most suitable part of the fetal muscle tissue for examination is transferred to a sterile test tube with 5-10 ml of physiological solution. To exclude the influence of maternal DNA on the examination result, DNA isolated from a sample of the mother’s buccal mucosa is simultaneously processed and examined.
Who is the examination intended for?
Clients after spontaneous or induced abortion
Message delivery date
48 hours
Price
7,200 CZK
Material for examination
Delivered DNA, amniotic fluid, chorionic tissue, fetal blood, aborted tissue, peripheral blood.
The collection of a sample of amniotic fluid, chorionic villi and fetal blood is performed by a specialist doctor after consulting the client with a clinical geneticist. Collection of chorionic villi is usually performed from week 11 to week 15 of pregnancy, collection of amniotic fluid from week 16 to week 21 of pregnancy and collection of fetal blood from week 18 of pregnancy. The doctor collects the aborted tissue during the procedure. The collection of a peripheral blood sample is performed by a healthcare professional after consulting the client with a clinical geneticist.
Samples can be processed without the need for cell culture or cultured.
Description of the examination
ArrayCGH chip technology is a molecular genetic method based on comparative genomic hybridization. Comparative analysis on the chip evaluates the patient’s DNA against reference DNA (healthy man, healthy woman). The probes used represent the whole genome and overlap with clinically relevant syndromes and genes. The results of the hybridization reactions are scanned by a laser scanner and evaluated by software. The method is capable of detecting changes of several tens to hundreds of kilobases.
The method is able to detect changes in the number of copies of whole chromosomes or their parts (deletion/duplication). A number of genetic syndromes are usually associated with submicroscopic deletions or duplications of part of the chromosomes, which are difficult to detect with ordinary cytogenetic examinations. In particular, microdeletion syndromes can be the cause of a number of physical, mental, developmental or reproductive abnormalities (the deletion often affects 1 or more genes necessary for the proper functioning of the organism). ArrayCGH is a reliable tool for detecting these genome-wide changes. Thanks to its high resolution, it detects most syndromes and abnormalities that have not yet been described and whose clinical significance is not yet known.
The method cannot capture point mutations, balanced structural aberrations and low-frequency mosaics. If the last two aforementioned aberrations are suspected, a karyotype examination and examination by the FISH method may be indicated.
ArrayCGH is mainly used in prenatal genetic counseling. In postnatal diagnosis, it contributes to clarifying the results of previous examinations. to establish a diagnosis by detecting known and unknown microdeletion/microduplication syndromes.
Who is the examination intended for as part of prenatal care?
Clients in the gynecologist’s or ultrasound specialist’s clinic who have been found to have:
Abnormal biochemical screening for congenital malformations
Abnormal ultrasound screening for congenital malformations
Intrauterine growth retardation
Older pregnant age (over 35 years)
Genetic load in the family
Carriership of balanced chromosomal aberrations in parents
Repeated spontaneous abortions in the anamnesis of the parents
Who is the examination intended for as part of postnatal care?
The method of first choice in patients with mental retardation, psychomotor retardation, autistic manifestations
Multiple congenital developmental pathologies (physical, mental)
Disorders of metabolism
Genetic load in the family
Clarification of findings from previous examinations
Refinement of the family history of healthy parents with pathologies in offspring or fetus
Clients in whom a normal finding was determined by classical methods and yet abnormalities appear in their phenotype
Message delivery date
5-20 working days / statim 7 working days
Price
25,000 CZK / statim 30,000 CZK
Description of the examination
The karyotype examination is a basic cytogenetic examination. Cytogenetics is a branch of genetics that deals with the analysis of chromosomes. Chromosomes are structures of typical shape, size and number, carriers of genetic information stored in the nuclei of all cells. Each person has 23 pairs of chromosomes (a total of 46 chromosomes), one pair of chromosomes comes from the mother, the other from the father. During conception, 2 sex cells, an egg and a sperm, are joined, each of which carries 1 half of the chromosomal equipment of the future individual.
According to the size and characteristic banding of individual chromosomes, we can compile a so-called karyotype for each individual. A woman and a man have 22 pairs of identical chromosomes (autosomes) and 1 pair of sex chromosomes, the composition of which differs. A woman has 2 sex chromosomes X, a man has one sex chromosome X and one Y. The entry of a normal female karyotype is 46,XX, a normal male karyotype is 46,XY.
Changes in the number or structure of chromosomes (chromosome aberrations) can be observed microscopically. Chromosomes in the so-called metaphase, stained with G-striping, are analyzed. Numerical deviations of entire chromosomes or abnormalities in the structure of individual chromosomes such as deletions, duplications, inversions, insertions, translocations, etc. can be detected in the client’s genetic make-up. The examination provides complete information about the individual’s genetic make-up, but is limited by the size of the aberration of about 10 megabases.
Chromosomal aberrations are the cause of many clinical manifestations and syndromes and can cause congenital malformations, mental retardation, fertility disorders, etc. They are also part of the pathogenesis of cancer.
The examination can be indicated prenatally, to determine the chromosomal makeup of the fetus, or postnatally, most often in infertile couples, gamete donors, or in the case of suspected congenital chromosomal aberration in an individual.
List of offered variants of karyotype examination
Material for examination
The collection of amniotic fluid is performed by a specialist doctor after consulting the client with a clinical geneticist. Collection of amniotic fluid is usually carried out between the 16th and 21st weeks of pregnancy. The examination is carried out from cultured amniotic fluid cells.
Who is the examination intended for?
Clients in the gynecologist’s or ultrasound specialist’s clinic who have been found to have:
Abnormal biochemical screening for congenital malformations
Abnormal ultrasound screening for congenital malformations
Intrauterine growth retardation
Older pregnant age (over 35 years)
Genetic load in the family
Carriership of balanced chromosomal aberrations in parents
Repeated spontaneous abortions in the anamnesis of the parents
Message delivery date
15-20 working days
Price
CZK 8,500
Material for examination
The collection of chorionic tissue is performed by a specialist doctor after consulting the client with a clinical geneticist. Collection of chorionic tissue is usually performed between the 11th and 15th week of pregnancy. The examination is carried out from cultured cells of the chorionic tissue.
Who is the examination intended for?
Clients in the gynecologist’s or ultrasound specialist’s clinic who have been found to have:
Abnormal biochemical screening for congenital malformations
Abnormal ultrasound screening for congenital malformations
Intrauterine growth retardation
Older pregnant age (over 35 years)
Genetic load in the family
Carriership of balanced chromosomal aberrations in parents
Repeated spontaneous abortions in the anamnesis of the parents
Message delivery date
15-20 working days
Price
9,500 CZK
Material for examination
Fetal blood sampling is performed by a specialist doctor after consulting the client with a clinical geneticist. Fetal blood sampling is usually performed from the 18th week of pregnancy. The examination is carried out from cultured fetal blood lymphocytes.
Who is the examination intended for?
Clients in the gynecologist’s or ultrasound specialist’s clinic who have been found to have:
Abnormal biochemical screening for congenital malformations
Abnormal ultrasound screening for congenital malformations
Intrauterine growth retardation
Older pregnant age (over 35 years)
Genetic load in the family
Carriership of balanced chromosomal aberrations in parents
Repeated spontaneous abortions in the anamnesis of the parents
Message delivery date
7 working days
Price
7,500 CZK
Material for investigation
The doctor collects the aborted tissue during the procedure. The indication for examination of aborted tissue is carried out by a gynecologist or a clinical geneticist. The examination is carried out from cultured cells of the aborted tissue.
Who is the examination intended for?
Clients who have had a spontaneous or induced abortion and where the presence of a congenital chromosomal aberration of the fetus is suspected.
Message delivery date
15-20 working days
Price
9,500 CZK
If indicated, other genetic tests can be offered
Description of the examination
An incorrect number of chromosomes (chromosomal aneuploidy) is one of the causes of embryo failure or miscarriage in the early stages of pregnancy. During assisted reproduction, the incorrect number of chromosomes of the embryo that was transferred to the mother’s uterus can be one of the many causes of IVF cycle failure. For couples with fertility problems undergoing treatment with assisted reproduction methods, genetic testing of the embryo can be offered before it is transferred to the uterus. The examination will make it possible to select promising embryos without an identifiable genetic abnormality and discard embryos with incorrect chromosomal makeup.
Preimplantation genetic testing enables genetic testing of embryos that are obtained by assisted reproduction methods, even before they are transferred to the uterus. From the embryos, one or two cells (blastomeres) obtained from the embryo on day 3 (72 hours) after fertilization or, more often, more cells obtained from the trophoectoderm of a 5-day-old blastocyst are taken. Cells of the future placenta, which are not crucial for the further development of the embryo, are biopsied. The collection of cells intended for genetic examination is carried out by an embryologist in vitro using micromanipulation techniques. The obtained cells are then sent to the laboratory for genetic examination and the embryo is frozen for possible transfer in one of the following cycles.
GENvia Laboratory, s.r.o. offers preimplantation genetic testing using “next generation sequencing” (NGS) technology. NGS technology ranks among the most modern approaches currently available in the field of preimplantation genetic testing. It provides a comprehensive, accurate and comprehensive screening of all 24 chromosomes of the examined material. DNA for preimplantation genetic screening can come from a blastomere biopsy of a three-day embryo or a trophoectoderm biopsy derived from a blastocyst. The technology is intended for the detection of aneuploidy of entire chromosomes. Based on the examination of numerical deviations of the entire chromosome set, it is possible to determine probably euploid embryos. Selected suitable, probably euploid embryos can then be used for transfer to the uterus. Choosing the right embryo for transfer can reduce the risk of an abnormal pregnancy, reduce the risk of miscarriage, increase the chance of successful implantation and thus increase the chance of success in in vitro fertilization and the birth of a healthy baby.
Who is the examination intended for?
To couples undergoing assisted reproduction in the following cases:
Higher age of the woman – over 35 years at the time of the expected birth
Repeated failures of previous cycles of assisted reproduction – at least 2 times
Repeated pregnancy losses after excluding other possible causes – at least 2 times
Numerical aberrations (eg 47,XXX, 47,XYY) and small mosaics (above 10%) of sex chromosomes detected from peripheral blood
Andrological factor (e.g. severe oligo-astheno-teratospermia) or use of sperm obtained by the MESA/TESE method in assisted reproduction
Birth or abortion of a child (fetus) with chromosomal aneuploidy
History of chemotherapy or radiotherapy in one or both partners
Message delivery date
20 working days
Price
upon inquiry
If indicated, other genetic tests can be offered
Description of the examination
Paternity expertise is used to determine the relationship of persons (father and son/daughter) based on genetic examination.
The genetic material (DNA) of each individual contains, among others, a set of characters that are very diverse (polymorphic) in the population. This means that each individual has a specific unique combination of these characteristics (the so-called DNA profile), which is characteristic for each person, similar to a fingerprint. At the same time, these polymorphic characters are hereditary, i.e. that we inherit half of our traits from our father and half from our mother.
In the genetic examination of kinship, the unique genetic profile of each examined individual is determined using the analysis of genetic material (DNA). The genetic profile is then compared between individual test subjects using analytical software. At the same time, the frequency of individual characters in the population is also taken into account in the analysis.
The result of a complex comparison is the probability with which the kinship of the tested persons can be confirmed or excluded. In the event of a mismatch of genetic characteristics, paternity can be excluded, in the event of a match, the degree of probability with which the kinship of the tested persons can be confirmed is evaluated (usually 99.99% or more).
For examination, our laboratory uses a commercially supplied identification kit, which ranks among the most complex validated detection kits in the world and meets the international criteria of the leading forensic organizations Scientific Working Group on DNA Analysis Methods (SWGDAM) and DNA Advisory Board (DAB).
How is the examination performed?
To all clients who are interested in genetic confirmation/exclusion of kinship of tested persons
How is the examination performed?
The examination can be performed as standard from a peripheral blood sample
An examination can be offered using tissue obtained by sampling the cells of the oral cavity mucosa – a simple painless swab of the inner side of the cheek
Message delivery date
10 working days / statim 5 working days
Price
7,500 CZK (classic trio father/mother/child) / statim 10,500 CZK
CZK 2,500 for each additional potential investigated client
If indicated, other genetic tests can be offered
Description of the examination
Celiac disease (celiac sprue, gluten enteropathy) is a genetically determined autoimmune inflammatory disease manifested by damage to the mucosa of the small intestine.
The main role in the pathogenesis of celiac disease is played by the complex immune system of the small intestine mucosa. As a result of intolerance to gluten (gluten)
contained in cereals, a complex immune reaction occurs in genetically predisposed persons with the production of a number of cytokines and the activation of other T-, B-lymphocytes and NK cells. At the same time, there is a powerful antibody response with the formation of a series of detectable antibodies in the serum. Ultimately, there is a gradual smoothing of the mucous membrane of the small intestine with a decrease in intestinal villi and subsequent malabsorption (insufficient absorption of nutrients).
Typical symptoms are diarrhea, abdominal pain, flatulence, failure to thrive and weight loss. Celiac disease has a high variability of manifestations with different time of manifestation of symptoms. It can manifest itself after the first inclusion of gluten in infancy, or it can be asymptomatic or with minimal symptoms until adulthood, where it often manifests itself during periods of stress. In addition to digestive problems, it can be a manifestation of reduced absorption of fats, fat-soluble vitamins and minerals, depression, eczema or impaired fertility.
The main genetic factors associated with the development of celiac disease are HLA class II molecules. We offer testing for predisposing HLA-DQ alleles (haplotypes DQ2.5, DQ8 and DQ2.2), which are present in more than 95% of people with celiac disease.
Who is the examination intended for?
Individuals with a positive family history
Patients with gastrointestinal problems (malabsorption, diarrhea, abdominal pain, flatulence) of unclear etiology
Patients with other autoimmune diseases often associated with celiac disease
Patients with a clinical or gastroscopic picture suspicious for celiac disease
Message delivery date
10 working days
Price
4,500 CZK
Description of the examination
We offer an examination of genetically determined lactose intolerance. Lactose intolerance (inability to digest milk sugar) affects approximately one in five people in Europe, while in the Asian population the proportion of people who are lactose intolerant is up to 100 percent. Digestion of milk sugar (lactose) in children is ensured by the lactase enzyme encoded by the LCT gene and naturally produced by the cells of the small intestine during childhood. Lactase breaks down lactose into the simpler sugars glucose and galactose, which are subsequently absorbed by the wall of the small intestine and distributed to the body as a source of energy via the bloodstream. Under normal circumstances, adult mammals lose the activity of the lactase enzyme (lactase non-persistence) and thus lose the ability to digest lactose (so-called lactose intolerance) in adulthood. In a person in such a case, there is typically a gradual reduction of lactase activity from the age of about 2-3 years until its complete disappearance, typically at the age of 5-10 years. However, in the human population, in connection with cattle breeding about 10 thousand years ago, as a compensatory mechanism for milk intake in adulthood, the so-called lactase persistence developed, i.e. the persistence of the activity of the enzyme lactase into adulthood, which leads to lactose tolerance in adulthood. Genetically, this lactase persistence is conditioned by a dominant variant affecting the LCT gene. The presence of a polymorphism in the LCT gene results in persistent activity of the lactase enzyme in adulthood and thus lactose tolerance. Conversely, the absence of these variants in the LCT gene leads to a natural loss of activity of the encoded enzyme and a loss of the ability to digest lactate in adulthood. As a result, undigested lactose accumulates in the intestine and is broken down by the bacteria present. This results in gastrointestinal symptoms including diarrhea, abdominal discomfort, stomach cramps, or flatulence. Non-specific extraintestinal symptoms such as headaches, muscle and joint pain, fatigue, dizziness, concentration disorders, cardiac arrhythmia, etc. are no exception.
In the European population, 2 variants in the regulatory region of the LCT gene are mainly responsible for lactase persistence, namely LCT-13910-C/T and LCT-22018-G/A. In the case of the presence of a normal allele in the homozygous state LCT-13910-C/C or LCT-22018-G/G (both so-called wild type), the activity of the lactase gene is many times lower in adulthood, which leads to lactase non-persistence and manifestations of lactose intolerance.
The homozygous haplotype LCT-13910-T/T or LCT-22018-A/A (both variants) is, on the other hand, associated with lactase persistence and thus lactose tolerance. Heterozygotes, i.e. people carrying both alleles of the tested gene, i.e. LCT-13910-C/T or LCT-22018-G/A, usually do not show symptoms of lactose intolerance, but may develop mild transient symptoms under certain conditions, e.g. during periods of increased load, stress or intestinal infection.
We offer the examination of both variants of the LCT gene, dominant in the European population, i.e. LCT-13910-C/T and LCT-G22018-G/A.
Who is the examination intended for?
All clients with non-specific digestive symptoms: unexplained diarrhea, nausea, stomach cramps, flatulence
Clients with otherwise unexplained non-specific extraintestinal symptoms: pain and dizziness, concentration and memory problems, excessive fatigue, muscle and joint pain, cardiac arrhythmia
Message delivery date
20 working days / statim 5 working days
Price
2,200 CZK/ statim 3,200 CZK
Description of the examination
We offer an examination of genetically determined fructose intolerance. Hereditary fructose intolerance (HFI) is a severe disorder of fructose, sucrose and sorbitol metabolism. The disease is caused by a congenital deficiency of the enzyme aldolase B (ALDOB) occurring mainly in the liver, small intestine and renal cortex and involved in the metabolism of exogenous fructose and related sugars. Manifestations of fructose metabolism disorders include vomiting, nausea, diarrhea, failure to grow and thrive, and metabolic disturbances (hypoglycemia, hyperuricemia, hypomagnesemia, or lactic acidosis). Manifestations occur when children transition from breast milk to food containing fructose and sucrose, and their severity can lead to a life-threatening condition following fructose intake. Persistent intake can eventually result in severe liver and kidney failure, resulting in death. However, patients very often develop a natural resistance to foods containing fructose and related sugars, which often leads to the suppression of disease manifestations and insufficient diagnosis. At the same time, early diagnosis is important from the point of view of preventing possible organ damage and determining the correct treatment. Fructose intolerance affects approximately 1 person in 10,000 to 100,000. In Central Europe, the incidence is reported to be 1:26,000. From this, the frequency of carriers is estimated to be 1:55 to 1:120.
Genetically, it is an autosomal recessive disease caused by a pathogenic mutation of the ALDOB gene, which encodes the enzyme aldolase B. Among the most frequently occurring and dominant in the European population, the mutated alleles of the ALDOB gene include the A149P, A174D, N334K and del4E4 deletions. In the case of the presence of a normal allele in the homozygous state (so-called wild type), aldolase B activity is preserved and fructose intolerance can be ruled out. The mutant haplotype in the homozygous state results in insufficient aldolase B activity and thus a disorder in fructose metabolism. The diagnosis of fructose intolerance is confirmed. Heterozygotes, i.e. people carrying both alleles of the tested gene, normal and mutant, do not show signs of fructose intolerance, as the normal allele produces a sufficient amount of aldolase B to ensure normal fructose metabolism. However, they can transmit the mutant allele to subsequent generations, so they are carriers of the disease.
We offer an examination of all four dominant variants of the ALDOB gene in the European population – the A149P, A174D, N334K alleles and the del4E4 deletion.
Who is the examination intended for?
All clients with non-specific digestive symptoms: vomiting, nausea, diarrhea
In case of otherwise unexplained metabolic disorders – hypoglycemia, hyperuricemia, hypomagnesemia or lactic acidosis
In liver or kidney failure in children and adults of unclear causes
Others with signs of intolerance after consuming fructose and related sugars
With a positive fructose tolerance test
Message delivery date
20 working days / statim 5 working days
Price
3,500 CZK/ statim 5,000 CZK
Description of the examination
We offer genetic testing for alpha-1-antitrypsin (A1AT) deficiency predisposing to a number of diseases, most often pulmonary emphysema (emphysema), possibly bronchiectasis, chronic hepatitis, cirrhosis of the liver, liver cancer, panniculitis (inflammation of subcutaneous fatty tissue) and vasculitis associated with c – ANCA. The onset of pulmonary emphysema can usually be noted no earlier than in the third decade of life, liver damage, on the other hand, manifests itself at any age. A1AT deficiency is currently the most common hereditary cause of liver transplantation in children. The A1AT protein belongs to the group of serine protease inhibitors (so-called SERPINS). It is an enzyme produced in the liver, which is then distributed through the bloodstream to the lungs, where it inhibits neutrophil elastase. When mutations occur in the A1AT gene, there is a decrease in the concentration of A1AT in the serum or a change in the structure of the protein and the inability to perform an inhibitory function in the lungs. Elastase can then uncontrollably split elastic fibers with the consequence of damage to lung tissue and the development of lung disease.
The most common pathogenic A1AT variants described in patients include the PI*S variant and the PI*Z variant. Patients with the PI*S variant in a homozygous state (both chromosomes carry the pathogenic PI*S variant) have a 20-30% lower A1AT level, however, the present concentration of A1AT in the serum is sufficient to prevent the manifestation of the disease. When the Pi*Z allele is present in the homozygous state, there is conformational instability and polymerization of A1AT, which accumulates in hepatocytes. The consequence is a significant decrease in the serum concentration of A1AT, which is not available to inhibit elastase in the lungs, and proteolytic damage to the lower airways occurs, which can ultimately result in the development of chronic obstructive pulmonary disease (COPD). The accumulation of polymerized A1AT in hepatocytes leads to liver damage, which can even result in liver cirrhosis. Individuals carrying a combination of the PI*S variant and the PI*Z variant may have an increased risk of developing lung disease, especially in conjunction with risk factors such as smoking, living in a dusty environment or repeated respiratory tract infections. Individuals carrying one copy of the PI*S variant or one copy of the PI*Z variant in combination with the normal PI*M variant make less A1AT, but usually enough to protect the organism, however they can transmit the pathogenic variant to the next generation.
In the European population, the disease due to A1AT deficiency affects 1:1,500–3,500 individuals. However, the clinical problems are not specific for the diagnosis of A1AT deficiency, and patients often remain undiagnosed, or are given a different diagnosis (e.g. bronchial asthma). Genetic examination is important from the point of view of early and correct diagnosis, initiation of treatment and prevention of risky behavior in carriers of risk variants.
We offer examination of the two most frequently occurring pathogenic variants of A1AT: the PI*Z variant and the PI*S variant
Who is the examination intended for?
For people with shortness of breath, chronic cough, bronchitis and other signs of emphysema
COPD in patients under 65 years of age or without exposure to risk factors, in a broader sense to all patients with COPD
Patients with bronchiectasis of unknown etiology
Individuals with symptoms of otherwise unexplained liver disease
For newborns with jaundice that persists 1-2 weeks after birth
Individuals with reduced serum A1AT levels
Relatives of persons with any of the diseases listed above or diagnosed with A1AT deficiency
Message delivery date
20 working days / statim 5 working days
Price
2,200 CZK/ statim 3,200 CZK
Description of the examination
We offer genetic testing for the gene for apolipoprotein B100 (APOB100) associated with the development of familial hypercholesterolemia. The gene for apolipoprotein B (APOB) encodes 2 forms of apolipoprotein B, the shorter apolipoprotein B48 (APOB48) and the longer apolipoprotein B100. Both variants form the basic protein component of lipoproteins, which are particles that play an important role in the transport of fats and cholesterol in the blood. APOB48 is formed in the intestines, where it plays a role in the transport of dietary fats from the intestine to the liver. APOB100 is synthesized in the liver and is a building block of low-, intermediate-, and very-low-density lipoproteins (LDL, IDL, VLDL), with LDL being the main carriers of cholesterol in the blood. APOB100 binds to LDL receptors in lipoprotein particles and thus enables the transport of cholesterol into cells. Cholesterol is then used in the cells, stored or excreted from the body. APOB100 thus plays a key role in maintaining the correct level of cholesterol in the cells and in the blood. A mutation in the APOB gene causes a change in the structure of the protein at the receptor binding site. This results in a lower affinity of LDL particles for receptors on the cell surface and an accumulation of LDL in the blood. An increased level of LDL in the blood causes its deposition in the walls of the arteries, fat deposits are formed that harden and scar the vessel wall, atherosclerotic changes in the vessel occur, and the risk of myocardial infarction increases significantly.
A genetic disorder leading to a mutation in the APOB gene is one of the causes of familial hypercholesterolemia. The most common pathogenic APOB variant is the 3500Q allele. Although the frequency of the mutated allele is only 0.1% in the healthy population, its frequency is up to 10% in individuals with familial hypercholesterolemia. The most common form of familial hypercholesterolemia due to an APOB mutation is the presence of a mutation in one copy of the gene (the so-called heterozygous state). The heterozygous form occurs with a frequency of 1:500–700. Clinical manifestations of atherosclerosis begin after the age of 30. The condition is associated with an increased risk of early-onset cardiovascular disease due to elevated cholesterol levels and affects individuals in the fourth to fifth decade of life. If familial hypercholesterolemia is not identified and appropriately treated at an early age, men have a 50% risk of fatal or non-fatal coronary events by age 50, and women have a 30% risk of the same by age 60. In case of damage to both alleles of the APOB gene, the so-called homozygous state, a severe form of hypercholesterolemia occurs with the manifestation of the disease already in childhood.
Genetic testing is important for:
a) correct establishment of a definitive diagnosis;
b) evidence of a pathogenic mutation potentially requires more aggressive lipid lowering due to higher cardiovascular risk;
c) with genetically proven hypercholesterolemia, there is a higher probability of early initiation of treatment and the willingness of patients to comply with treatment measures;
d) examination of relatives at risk can be offered. A consensus panel of experts (JACC Scientific Expert Panel) under the auspices of the American company Familial Hypercholesterolemia Foundation recommends that genetic testing for familial hypercholesterolemia become the standard of care for patients with definite or probable familial hypercholesterolemia and their relatives at risk.
We offer an examination of the pathogenic variant of the APOB gene R3500Q, which is the most widespread mutation of the APOB gene.
Who is the examination intended for?
Individuals with elevated cholesterol levels, especially when a familial occurrence is suspected
Children with persistently high cholesterol without an obvious secondary cause
Individuals with premature onset of cardiovascular disease in the family history
Relatives of carriers of the pathogenic variant APOB100
Message delivery date
20 working days / statim 5 working days
Price
950 CZK/ statim 1,950 CZK
Description of the examination
We offer genetic testing for the apolipoprotein E (APOE) gene. Apolipoprotein E is an important component of high-, intermediate-, low-, and very-low-density lipoproteins (HDL, IDL, LDL, VLDL), particles that transport cholesterol. Apolipoprotein E is produced mainly in the brain and liver and serves as a ligand for LDL receptors and LDL receptor-related protein-1, through which it affects the uptake of LDL cholesterol by cells. Apolipoprotein E occurs in three isoforms: E2, E3, E4. These isoforms can thus occur in six combinations, so-called genotypes (homozygous genotypes: E2/E2, E3/E3 E4/E4 and heterozygous genotypes: E2/E3, E2/E4, E3/E4). In the population, the most common allele is E3, which occurs in about 78%, followed by the E4 allele with about 14% and the E2 allele occurring in about 8%.
The E3/E3 genotype is the most frequently occurring genotype and is considered standard, so-called neutral, in relation to the development of cardiovascular diseases and Alzheimer’s disease. The E2 isoform is considered protective for cardiovascular disease in the heterozygous state. Compared to the E3 and E4 isoforms, APOE2 has a significantly reduced affinity for lipoprotein receptors, which leads to lower APOE clearance, higher plasma APOE concentration, upregulation of liver LDL receptors, and thus a decrease in serum LDL concentration. This reduced affinity is further associated with increased plasma triglyceride concentration. Some individuals with the E2/E2 genotype may develop type III hyperlipoproteinemia (or familial dysbetalipoproteinemia), which is characterized by elevated serum cholesterol, triglycerides, and beta-VLDL, leading to atherosclerosis at a young age. The presence of the E4 allele is considered a risk factor. The clearance of the E4 allele is much more efficient, it is associated with a lower concentration of APOE in the serum and thus with an increased level of LDL in the blood, which results in atherosclerotic changes in the vessels and significantly increases the risk of myocardial infarction and stroke. The presence of the E4 allele is further considered to be a major genetic determinant of the development of late-onset Alzheimer’s disease. Cholesterol in brain tissue is crucial for the formation and maintenance of synaptic connections between neurons, and APOE is involved in synaptic plasticity. If lipid homeostasis is disturbed, synapses degenerate, which significantly contributes to neurodegenerative changes. The E4 allele has the lowest affinity for amyloid, which leads to its less efficient removal and probably leads to the excessive deposition of protein clusters, so-called amyloid plaques, in brain tissue, which leads to the death of neurons and the progression of neurodegenerative disease symptoms. Carriers of the APOE4 allele develop the disease more often, at a younger age, and may have a more rapid course. Individuals carrying one E4 allele in the genotype have an increased risk (approx. 3–5x), but less significantly than individuals carrying the E4/E4 genotype (risk increased up to 15x). In addition to the risk of Alzheimer’s disease, the presence of the E4 allele is also described in connection with another neurodegenerative disease – dementia with Lewy bodies, characterized by a decline in intellect, hallucinations, sudden changes in mood and attention, and movement disorders similar to Parkinson’s disease. Carriers of the E4 allele apparently experience a malfunction in the transport of the alpha-synuclein protein into and out of cells, which then accumulates in the brain tissue forming clusters, so-called Lewy bodies. Their accumulation subsequently leads to the death of nerve cells and the development of neurological symptoms of the disease.
We offer a genetic examination of all 3 occurring isoforms of apolipoprotein E: E2, E3, E4 and determination of the relevant genotype.
Who is the examination intended for?
Individuals with elevated levels of cholesterol or triacylglycerols, especially when a familial occurrence is suspected
Children with persistently high cholesterol without an obvious secondary cause
Individuals with premature onset of cardiovascular disease in the family history
Individuals with progression of cognitive dysfunction, dementia with suspected Alzheimer’s disease
Relatives of carriers of the pathogenic APOE variant
Message delivery date
20 working days / statim 5 working days
Price
2,200 CZK/ statim 3,200 CZK
Description of the examination
Gilbert syndrome is hereditary chronic hyperbilirubinemia without evidence of other liver dysfunction or hemolysis.
The disease is characterized by a small increase in unconjugated bilirubin in the serum without the presence of bilirubin in the urine. The incidence of the disease is roughly 3-15% of the population, men are affected more often than women (in a ratio of 4:1). The disease is often diagnosed in adolescence (most often in patients aged 15–30 years) and subsequently manifests itself throughout life. In most cases, patients are clinically completely free of problems, rarely non-specific digestive problems, mild jaundice, weakness or problems with concentration may appear. The liver parenchyma is free of macroscopic and microscopic changes.
This disease does not require special treatment, it is a benign disease with an excellent prognosis, a light liver diet can be recommended. A correct and quick diagnosis of the disease leads to a reduction in the burden on the patient and the healthcare system with repeated examinations and reduces the clients’ fears of serious liver disease.
However, patients should consult their doctor about the use of medicines. Some medicines cause a further increase in the concentration of bilirubin in the blood. These include, for example, Atazanavir and Indinavir used to treat HIV, Gemfibrozil and statins to lower cholesterol levels, chemotherapy drugs Irinotecan and Nilotinib. A high risk of serious toxic effects (diarrhea, hematological toxicity) has been described. It is recommended to examine these patients before starting treatment.
The molecular basis of the disease is the insertion of two TA nucleotides into the promoter region of the UGT1A1 gene. The normal allele contains 6 TA sequences, in the case of the mutated allele, the number of TA sequences increases to 7 after insertion. As a result of the aforementioned insertion, the activity of the UDP-glucuronosyltransferase enzyme encoded by the UGT1A1 gene decreases.
In addition to careful patient history, physical examination and laboratory blood tests, the diagnosis relies on molecular genetic testing of the UGT1A1 gene promoter. Gilbert syndrome patients have 7 TA repeats on both alleles, carriers have one allele with 6 TA repeats and the other allele with 7 TA repeats. The specificity of molecular genetic testing for confirming the diagnosis of Gilbert’s syndrome is high.
Who is the examination intended for?
Confirmation of the diagnosis of Gilbert’s syndrome
Prediction of toxicity of therapy of selected drugs (Irinotecan, Nilotinib, Gemfibrozil, statins, Atazanavir, Indinavir)
Positive family history
Elucidation of the cause of hyperbilirubinemia
Message delivery date
10 working days
Price
CZK 2,000
Description of the examination
Examination of thrombophilic mutations is performed in patients with an increased tendency to blood clotting and venous thrombosis.
Venous thrombosis is a clinically serious disease with an incidence of 0.5–1.2/1000 inhabitants. Among the causes contributing to the development of this disease, we include clinical factors (obesity, injuries, surgical procedures, used drugs, etc.) and genetic factors (mutations in the genes encoding factor C, protein S, antithrombin, prothrombin and factor V). Thrombophilic mutations occur in approximately 8% of the population in the Czech population and are associated with the risk of acute stroke, myocardial infarction and pulmonary embolism. In gynecology and obstetrics, thrombophilic mutations increase the risk of certain serious conditions during pregnancy and childbirth, up to 8 times (e.g. repeated spontaneous abortions in the first trimester of pregnancy, placental abruption, intrauterine fetal growth retardation, etc.). In women with a thrombophilic mutation, the risk of thrombosis may be further increased by the use of hormonal contraception.
The most significant genetic factor is a variant in the factor V gene (Leiden mutation, G1691A). The heterozygous form of the Leiden mutation increases the risk of thrombosis 3-8 times, the homozygous form represents an 80-fold higher risk.
The second most common genetic factor associated with venous thrombosis is a mutation in the prothrombin gene (G20210A).
Other genetic factors include polymorphisms in the MTHFR gene (A1298C, C677T) involved in the development of homocystinuria and hyperhomocysteinemia and subsequent increased risk of atherosclerosis, venous and arterial thrombosis, myocardial infarction, and stroke. Pregnant women homozygous for the MTHFR gene variant have an increased risk of cleft birth defects, especially of the spine and central nervous system.
Furthermore, the 4G polymorphism in the promoter of the PAI-1 gene contributes to the increased risk, the presence of which together with any of the genetic factors described above increases the risk of thrombosis, which is associated with a higher risk of myocardial infarction and other acute coronary events.
We offer testing for the Leiden mutation in the gene for coagulation factor V (G1691A), the mutation G20210A in the gene for prothrombin (gene for coagulation factor II), testing for polymorphisms C677T, A1298C of the MTHFR gene, and polymorphism 4G in the promoter of the PAI-1 gene.
Who is the examination intended for?
Patients with a positive family history
Patients with repeated abortions
For women before planned hormonal stimulation
Message delivery date
10 working days
Price
CZK 1,200 for one option from the offered spectrum
Description of the examination
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variants in the anamnesis
Message delivery date
upon request (depends on the test methodology used)
Price
upon request (depends on the test methodology used)
If indicated, other genetic tests can be offered
Description of the examination
We offer examination of genes whose germline mutations are proven to increase the risk of malignant tumors, i.e. they are so-called associated with hereditary tumor syndromes. The GENvia oncopanel investigation is focused malignant tumors by adults.
For the examination, we use the technology of massively parallel sequencing, or “next generation sequencing” (NGS), which makes it possible to very efficiently sequence and characterize a wide range of genes or gene regions responsible for or involved in genetically determined diseases. The panel is designed for full coverage of protein-coding sequences (i.e. we determine the sequence in the entire range of coding regions – exons without 5′ and 3′ untranslated regions of mRNA) including adjacent sequences necessary for mRNA splicing (i.e. we determine the first and last 5 bases of introns between coding exons). We also detect changes in the number of copies (copy number variants, CNV), i.e. deletions and duplications of a larger extent.
We use NGS to diagnose variants in the following 43 genes: APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, EPCAM, FANCC, FANCM, HOXB13, CHEK2, KIT, MLH1, MLH3, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, POLD1, POLE, PRSS1, PTEN, RAD51C, RAD51D, RECQL, RECQL4, RINT1, SLX4, SMAD4, SMARCA4, STK11, TP53, VLH and XRCC2.
The examination of the BRCA1 gene and selected areas of the ATM, TP53 and CHEK2 genes is subsequently supplemented by an examination using the MLPA method – multiple ligation-dependent probe amplification, which is aimed at detecting the presence of a change in the number of copies in the range of one exon to the entire gene (i.e. deletion and duplication of a larger range).
How is the examination performed?
Clients who were diagnosed with cancer at an unusually early age
For people with multiple tumors of different origin
For people with multiple tumors of the same origin (bilateral or multifocal)
For persons with bilateral occurrence of cancer in paired organs
To individuals with a histological tumor subtype typical for mutations in the gene(s) included in the panel
People with repeated occurrence of malignant diseases in the family, especially when the disease manifests itself at an early age or in a combination of certain types.
NOTE: The examination can be performed after reaching the age of 18, only exceptionally earlier (for syndromes with cancer in childhood).
Message delivery date
3 months
Price
39,600 CZK
Description of the examination
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
How is the examination performed?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Message delivery date
upon request (depends on the test methodology used)
Price
upon request (depends on the test methodology used)
If indicated, other genetic tests can be offered
Description of the examination
We offer examination of vision disorders caused by loss of function of the RPE65 (retinal pigment epithelium 65) gene.
Loss of RPE65 function is associated with progressive visual impairment that can lead to complete blindness. The disease occurs in three forms, the least favorable being Leber’s congenital amaurosis type 2, in which the quality of vision is already reduced at birth and gradually deteriorates to the stage of complete blindness already in young adulthood. Retinal dystrophy type 20 (also known as retinitis pigmentosa type 20) is a milder form of the disease that begins in preschool or younger school age. The third, mildest form of the disease is the so-called autosomal dominant form of the disease called retinitis pigmentosa 87 with involvement of the choroid. Some individuals with this form may not be affected at all, while others’ vision begins to deteriorate from young adulthood to middle age.
Currently, gene therapy is available for patients with visual impairment caused by loss of RPE65 function, which allows for a long-term reversal of the decrease in visual function. Therefore, it is essential for all gene therapy candidates to undergo genetic testing to confirm the presence of the pathogenic form of the RPE65 gene.
For the examination, we use the technology of massively parallel sequencing, or “next generation sequencing” (NGS), which makes it possible to very efficiently sequence and characterize a wide range of genes or gene regions responsible for or involved in genetically determined diseases.
How is the examination performed?
Patients with a progressive form of vision loss in whom loss of function of the RPE65 gene is suspected, or when considering the indication for gene therapy
Message delivery date
3 months
Price
27,500 CZK
Description of the examination
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
How is the examination performed?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Message delivery date
upon request (depends on the test methodology used)
Price
upon request (depends on the test methodology used)
If indicated, other genetic tests can be offered
Description of the examination
Testing for the COL1A1 and COL1A2 genes is done in patients suspected of having a congenital connective tissue disorder. Mutations in these two genes are associated with osteogenesis imperfecta.
Osteogenesis imperfecta (OI), also called brittle bone syndrome, represents a group of genetically determined diseases. It is a hereditary disorder of the connective tissue with autosomal dominant or recessive transmission. The cause of the disease is most often (90%) a mutation of one of the two genes, COL1A1 or COL1A2, which encode type I collagen. The incidence of OI ranges between 1/15,000-20,000 births. The clinical manifestation of the disease is quite varied. The most fundamental manifestation of the disease is increased bone fragility, while there is significant individual variability. Individuals with more severe forms of the disease tend to have a very small stature and a triangular face shape. Infants tend to have large fontanelles, which also close later. A non-negligible part of patients has so-called Wormian bones on their skulls. Blue sclerae are typically associated with OI. They are darker and may have a gray or bluish tinge. In approximately 50% of patients, dentinogenesis imperfecta is evident with the finding of dull transparent and fragile tooth enamel. Deformities of the chest and spine are also common. Children have loose ligaments, which leads to hypermobility and joint instability, hernias occur more often and hematomas form easily. Mental development is not affected. In the third or fourth decade of life, less often even earlier, patients with OI are at risk of hearing impairment. The cause is structural disorders of the ossicles of the middle ear, sometimes abnormalities in the area of the inner ear. Several subtypes of OI can be distinguished according to clinical manifestations, mode of inheritance and X-ray findings. More than 800 different mutations have already been found in the COL1A1 and COL1A2 genes, located on chromosomes 7 and 17, respectively. Despite an identical mutation, the degree of severity of clinical manifestations can vary significantly in individual family members.
To examine the COL1A1 and COL1A2 genes, we use the technology of massively parallel sequencing or “next generation sequencing” (NGS), which makes it possible to very efficiently sequence and characterize a wide range of genes or gene regions responsible for or involved in genetically determined diseases.
If no causative mutation is found in the genes, the COL1A1 gene can be analyzed by the MLPA (multiple ligation-dependent probe amplification) method designed to detect larger deletions and duplications that cannot be captured by the sequencing method.
Who is the examination intended for?
For clients with suspicion of osteogenesis imperfecta
Message delivery date
3 months
Price
27,500 CZK
Description of the examination
We offer examination of the HLA-B27 allele associated with Bechterev’s disease and axial spondyloarthritis.
Spondyloarthritis are inflammatory diseases of the locomotor system of autoimmune origin, in which chronic inflammatory changes occur in the joints of the spine and limbs. Ankylosing spondylitis (Bechterev’s disease) is a chronic inflammatory disease of the spine leading to reduced mobility and accompanied by significant pain. Bechterev’s disease is more common in men and occurs at a young age (third to fourth decade). It most often manifests as inflammatory back pain (the pain occurs at rest and is alleviated by exercise, unlike the more common “degenerative” back pain). The course is chronic, there is gradual destruction of the intervertebral joints with fusion of bony projections and a corresponding loss of mobility (ankylosis). In addition to affecting the spine, inflammations of peripheral joints, tendons or the iris are common. Due to the insidious onset of the disease, several years usually pass from the first symptoms to the determination of the diagnosis. An earlier diagnosis is desirable, especially due to the improving treatment options with so-called biological preparations (e.g. anti-TNFα antibodies), which are most effective at the beginning of the disease, before irreversible joint damage occurs.
The diagnosis is based on the clinical picture and radiological findings, including magnetic resonance, from laboratory tests, only the determination of the genotype of the B gene from class I of the major histocompatibility complex, specifically its form (allele) HLA-B27, which occurs in more than 90%, is of clear significance of cases of Bechterev’s disease and approximately 70% of cases of axial spondyloarthritis. Determination of HLA-B27 can be recommended for any patient suspected of having axial spondyloarthritis, especially Bechterev’s disease.
Who is the examination intended for?
Patients with a positive family history
For patients with lower back pain lasting at least 3 months that improves with exercise
Patients with limitation of mobility of the lumbar spine in the sagittal and frontal planes
Patients with non-infectious uveitis of the anterior chamber of the eye
Patients with rheumatic diseases
Message delivery date
10 working days
Price
CZK 2,000
Description of the examination
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by a defect in the SMN1 gene.
The SMN1 gene and its nearly identical copy, the SMN2 gene, are located on chromosome 5q13.2. The SMA disease is characterized by progressive symmetrical muscle weakness, manifested by significant muscle hypotonia, hypo- to areflexia of the limbs, breathing difficulties and muscle hypotrophy to atrophy. Based on clinical severity, they can be divided into 4 types. The incidence of the disease is around 1/10,000 births. The estimated frequency of carriers in European populations is 1/37 individuals. A total of 95% of SMA patients have a homozygous deletion of exon 7 of the SMN1 gene. The remaining 5% of patients are heterozygotes carrying a deletion of exon 7 of the SMN1 gene on one chromosome and a small pathogenic sequence variant on the other.
The SMN2 gene predominantly produces a transcript with excised exon 7, which translates into an unstable and non-functional protein. In addition to the transcript without exon 7, the SMN2 gene also produces a small amount of the full-length transcript and therefore a small amount of functional SMN2 protein. Thus, patients with multiple copies of SMN2 have milder SMA phenotypes.
We offer SMN1 exon 7 and 8 copy number testing for SMA carrier and SMA diagnosis. The examination is based on the principle of MLPA (multiple ligation-dependent probe amplification) and is designed to detect deletions and duplications of selected regions. This kit can also be used to detect the copy number of exon 7 and 8 of the SMN2 gene, as interpretive aids in determining the copy number of the SMN1 gene.
Who is the examination intended for?
Patients with a suspected diagnosis of SMA
Clients with a positive family history
Gamete donors
Message delivery date
10 working days
Price
7,500 CZK
Description of the examination
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Message delivery date
upon request (depends on the test methodology used)
Price
upon request (depends on the test methodology used)
If indicated, other genetic tests can be offered
Description of the examination
We offer testing for genes that are associated with some congenital sex-determination disorders, including androgen insensitivity syndrome and cryptorchidism.
For the examination, we use the technology of massively parallel sequencing, or “next generation sequencing” (NGS), which makes it possible to very efficiently sequence and characterize a wide range of genes or gene regions responsible for or involved in genetically determined diseases. The panel is designed for the examination of disorders of sex development and the differential diagnosis of cryptorchidism caused by point variants in the coding regions of associated genes.
For other disorders of sex development, an examination using arrayCGH, which we also perform, can be recommended, thereby ensuring the examination of disorders associated with numerical changes in responsible areas (“copy number variants”, CNV).
We diagnose variants in the following 10 genes: AR, INSL3, INSL3R, SRY, SOX9, DHH, NR5A1, MAP3K1, ZFPM2 and NR2F2
Who is the examination intended for?
Clients with congenital disorders of sex development, including androgen insensitivity syndrome and cryptorchidism
Message delivery date
3 months
Price
27,500 CZK
Description of the examination
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Message delivery date
upon request (depends on the test methodology used)
Price
upon request (depends on the test methodology used)
Description of the examination
The examination is aimed at detecting a microdeletion (missing a small part) of the Y chromosome in the AZF region, which is often associated with male infertility.
The frequency of microdeletion in the AZF region is estimated to be 1/10,000 male births. The AZF region is divided into three subregions designated AZFa, AZFb and AZFc. Genes found in this region are involved in the process of spermatogenesis and are essential for male reproduction. Individual subregions are associated with a certain phase of spermatogenesis. If a microdeletion occurs in the AZFb and AZFc subregions, its phenotypic expression varies from azoospermia to oligozoospermia. Microdeletions in the AZFa subregion are characterized in most cases by the complete absence of spermatogonia (Sertoli cell-only syndrome), which manifests itself as azoospermia in the ejaculate.
Who is the examination intended for?
Males with impaired fertility with severe oligozoospermia or azoospermia
Message delivery date
10 working days
Price
CZK 4,000
Description of the examination
We offer an examination of the 50 most common mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, supplemented by the detection of extensive deletions and duplications of the CFTR gene.
Cystic fibrosis is an inherited disease with a grave prognosis. It ranks among the most common autosomal recessive hereditary diseases, the incidence in the Czech Republic is 1/4,500, while every 26th individual is a carrier of a mutation in the CFTR gene. Cystic fibrosis is a disease that is manifested by the formation of very thick mucus in the respiratory and digestive system. As a result, patients with cystic fibrosis suffer from persistent breathing difficulties, recurrent and chronic respiratory tract infections, digestive problems and general failure of the organism. Males experience infertility with azoospermia as a result of CBAVD (Congenital Bilateral Aplasia of Vas Deferens = they do not have a vas deferens), affected women also have significantly reduced fertility. Very salty sweat may be noted in young children (“salty children”).
The cause of the disease is a mutation in the CFTR gene located on chromosome number 7. The severity of the disease depends on the specific mutation of the CFTR gene, in exceptional cases the disease may not be clinically significant. Early diagnosis of this disease, i.e. within two months of birth, will significantly affect the treatment and related prognosis of the disease.
The examination of the 50 most common mutations of the CFTR gene that we offer covers approximately 92% of all mutations of the CFTR gene in the Czech population. In addition, in the laboratory GENvia, s.r.o. as standard, we supplement the examination with the detection of CFTR gene rearrangements using MLPA (multiple ligation-dependent probe amplification) technology, which captures large-scale deletions (losses) and duplications (doubling) of selected areas of the CFTR gene.
Who is the examination intended for?
For patients with persistent cough, frequent inflammation of the sinuses and respiratory tract
Children with disabilities
For newborns with bowel obstruction and significantly salty sweat
For couples with fertility disorders
Partners of mutation carriers before or during the planned pregnancy
Prenatal examination in a couple where both partners are carriers of the CFTR gene mutation
Prenatal diagnosis in fetuses with ultrasound findings suspicious for cystic fibrosis
Gamete donors to exclude transmission
Message delivery date
10 working days
Price
9,500 CZK
If indicated, other genetic tests can be offered
Description of the examination
We offer an examination of the entire protein-coding sequence of the DHCR7 gene.
Variants in the DHCR7 gene are associated with the development of Smith-Lemli-Opitz syndrome (SLOS). It is an autosomal recessive disease with manifestations of mental retardation, facial dysmorphism, syndactyly of the second or third finger, malformation of internal organs or holoprosencephaly. The disease can manifest itself prenatally, the suspicion is usually expressed on the basis of an ultrasound finding in the 21st week (less often already in the 1st trimester), and the finding can be a reason to terminate the pregnancy. Sometimes the disease manifests itself soon after birth, congenitally. SLOS is the third most common inherited metabolic disorder after cystic fibrosis and phenylketonuria. It occurs with a frequency of 1:20,000 to 1:40,000 and is more common in the European population than in the Asian or African population. In the Czech Republic, the reported frequency is 1:10,000. This means that the frequency of carriers is up to 2% of the population.
The main cause of SLOS development is variants in the DHCR7 gene, which codes for the 7-dehydrocholesterol reductase protein. The enzyme 7-dehydrocholesterol reductase is of catalytic importance in the final stage of cholesterol biosynthesis. Deficiency in the DHCR7 gene results in abnormally low activity of the encoded enzyme leading to abnormalities in cholesterol metabolism and the clinical manifestation of SLOS disease.
Mutations causing SLOS occur throughout the protein coding sequence of the DHCR7 gene, therefore the investigation is focused on the entire coding sequence of the causal gene by direct sequencing followed by analysis of all found sequence variants of the analyzed region. Subsequently, the examination is supplemented by the analysis of large gene rearrangements by the MLPA method, which captures duplications and deletions of the DHCR7 gene, which are associated with SLOS.
Who is the examination intended for?
Suspected SLOS prenatally and postnatally: microcephaly, facial dysmorphism, cleft palate, malformations of the heart, lungs, liver, pancreas, kidneys and adrenal glands, genital abnormalities, syndactyly of the second and third fingers, polydactyly
Message delivery date
10 working days
Price
25,000 CZK
Description of the examination
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variants in the anamnesis
Message delivery date
upon request (depends on the test methodology used)
Price
upon request (depends on the test methodology used)
Description of the examination
The karyotype examination is a basic cytogenetic examination. Cytogenetics is a branch of genetics that deals with the analysis of chromosomes. Chromosomes are structures of typical shape, size and number, carriers of genetic information stored in the nuclei of all cells. Each person has 23 pairs of chromosomes (a total of 46 chromosomes), one pair of chromosomes comes from the mother, the other from the father. During conception, 2 sex cells, an egg and a sperm, are joined, each of which carries 1 half of the chromosomal equipment of the future individual.
According to the size and characteristic banding of individual chromosomes, we can compile a so-called karyotype for each individual. A woman and a man have 22 pairs of identical chromosomes (autosomes) and 1 pair of sex chromosomes, the composition of which differs. A woman has 2 sex chromosomes X, a man has one sex chromosome X and one Y. The entry of a normal female karyotype is 46,XX, a normal male karyotype is 46,XY.
Changes in the number or structure of chromosomes (chromosome aberrations) can be observed microscopically. Chromosomes in the so-called metaphase, stained with G-striping, are analyzed. Numerical deviations of entire chromosomes or abnormalities in the structure of individual chromosomes such as deletions, duplications, inversions, insertions, translocations, etc. can be detected in the client’s genetic make-up. The examination provides complete information about the individual’s genetic make-up, but is limited by the size of the aberration of about 10 megabases.
Chromosomal aberrations are the cause of many clinical manifestations and syndromes and can cause congenital malformations, mental retardation, fertility disorders, etc. They are also part of the pathogenesis of cancer.
The examination can be indicated prenatally, to determine the chromosomal makeup of the fetus, or postnatally, most often in infertile couples, gamete donors, or in the case of suspected congenital chromosomal aberration in an individual.
List of offered variants of karyotype examination
Material for examination
The collection of amniotic fluid is performed by a specialist doctor after consulting the client with a clinical geneticist. Collection of amniotic fluid is usually carried out between the 16th and 21st weeks of pregnancy. The examination is carried out from cultured amniotic fluid cells.
Who is the examination intended for?
Clients in the gynecologist’s or ultrasound specialist’s clinic who have been found to have:
Abnormal biochemical screening for congenital malformations
Abnormal ultrasound screening for congenital malformations
Intrauterine growth retardation
Older pregnant age (over 35 years)
Genetic load in the family
Carriership of balanced chromosomal aberrations in parents
Repeated spontaneous abortions in the anamnesis of the parents
Message delivery date
15-20 working days
Price
CZK 8,500
Material for examination
The collection of chorionic tissue is performed by a specialist doctor after consulting the client with a clinical geneticist. Collection of chorionic tissue is usually performed between the 11th and 15th weeks of pregnancy. The examination is carried out from cultured cells of the chorionic tissue.
Who is the examination intended for?
Clients in the gynecologist’s or ultrasound specialist’s clinic who have been found to have:
Abnormal biochemical screening for congenital malformations
Abnormal ultrasound screening for congenital malformations
Intrauterine growth retardation
Older pregnant age (over 35 years)
Genetic load in the family
Carriership of balanced chromosomal aberrations in parents
Repeated spontaneous abortions in the anamnesis of the parents
Message delivery date
15-20 working days
Price
9,500 CZK
Material for examination
Fetal blood sampling is performed by a specialist doctor after consulting the client with a clinical geneticist. Fetal blood sampling is usually performed from the 18th weeks of pregnancy. The examination is carried out from cultured fetal blood lymphocytes.
Who is the examination intended for?
Clients in the gynecologist’s or ultrasound specialist’s clinic who have been found to have:
Abnormal biochemical screening for congenital malformations
Abnormal ultrasound screening for congenital malformations
Intrauterine growth retardation
Older pregnant age (over 35 years)
Genetic load in the family
Carriership of balanced chromosomal aberrations in parents
Repeated spontaneous abortions in the anamnesis of the parents
Message delivery date
7 working days
Price
7,500 CZK
Material for examination
The doctor collects the aborted tissue during the procedure. The indication for examination of aborted tissue is carried out by a gynecologist or a clinical geneticist. The examination is carried out from cultured cells of the aborted tissue.
Who is the examination intended for?
Clients who have had a spontaneous or induced abortion and where the presence of a congenital chromosomal aberration of the fetus is suspected.
Message delivery date
15-20 working days
Price
9,500 CZK
Materiál k vyšetření
Odběr periferní krve provádí zdravotnický pracovník po konzultaci klienta s klinickým genetikem. Vyšetření je prováděno z kultivovaných lymfocytů periferní krve.
Komu je vyšetření určeno?
Klientům, u kterých lze vysledovat:
Vrozené vývojové vady nebo abnormality ve fenotypu
Opoždění růstu a vývoje
Růstová či mentální retardace v osobní nebo rodinné anamnéze
Psychomotorická redardace
Poruchy vývoje pohlaví
Porucha plodnosti (vyšetření u neplodných párů)
Opakované těhotenské ztráty
Mrtvorozený plod či úmrtí novorozence
Jiná genetická zátěž v rodině
Vyšetření dárců pohlavních buněk
Termín dodání zprávy
15–20 pracovních dnů / statim 7 pracovních dnů
Cena
6 500 Kč / statim 7 500 Kč
Material for examination
The examination is performed on short-term (48 hours) cultured peripheral blood lymphocytes. Peripheral blood sampling is performed by a healthcare professional after consulting the client with a clinical geneticist.
Description of the examination
Examination of acquired chromosomal aberrations (ZCA) from peripheral blood is a genotoxicological method that monitors the occurrence of specific chromosomal aberrations in clients who are exposed to harmful genotoxic (clastogenic) effects of various substances.
Genotoxic substances have a mutagenic and carcinogenic effect and are of physical, chemical or biological origin. In practice, this mainly concerns professional exposure to chemical substances or radiation, the state after medical therapy (ionizing radiation, cytostatics, immunosuppressants) or experiencing a viral infection. The degree of damage to the genetic material (chromosomes) is proportional to the level of risk of the mentioned processes and is expressed as a percentage.
The finding of an increased number of ZCA, confirmed by a repeated examination after a specified time interval, means for the client an increased risk of developing cancer and possibly increased risk of congenital developmental defects in offspring.
Who is the examination intended for?
Clients, by which can be traced
Occupational exposure to clastogenic substances
Suspicion of a disease with increased fragility of chromosomes (diseases with congenital chromosomal instability)
Completing cancer treatment
Message delivery date
20 working days
Price
CZK 5,000
Material for examination
Amniotic fluid, chorionic tissue, fetal blood, aborted tissue, peripheral blood. The sample is taken by a healthcare worker or a specialist doctor after consulting the client with a clinical geneticist. Samples can be processed without the need for cell culture or cultured.
Description of the examination
Fluorescence in situ hybridization (FISH) is a molecular cytogenetic method that uses fluorescently labeled probes to hybridize to selected sections of the examined chromosomes. These probes can then be visualized in the form of light signals in a fluorescence microscope. The presence/absence of the monitored signal or of the chromosomal locus is expressed as a percentage.
The FISH method can be used for rapid detection of chromosomal aneuploidy (numerical deviations of entire chromosomes) or for targeted detection of deletion or duplication of a part of a chromosome, including difficult-to-detect microdeletions/microduplications. Often, FISH is indicated as a supplement to a basic cytogenetic examination (karyotype examination) or molecular genetic examination (aminoPCR, aCGH), to verify, specify or supplement the findings. However, the method is most often used to identify mosaic forms of various syndromes, such as Turner syndrome (45,X) in women or Klinefelter syndrome (47,XXY) in men, when the aberration is not present in all the cells of the examined person, but only in some.
Currently, there are approximately 15-20% of infertile couples in the population. In part of them (5–13%), infertility is caused by chromosomal aberrations, most often numerical deviations of sex chromosomes (gonosomes). Gonosome mosaicism and its degree are then related to fertility disorders.
FISH examination is performed on both metaphase (dividing) and interphase (non-dividing) cells. The result always refers only to the specific examined area, which is covered by the probes used, and does not provide a comprehensive view of the individual’s karyotype, as is the case with a karyotype examination.
Who is the examination intended for?
Clients, by whose can be targeted to a specific syndrome or chromosomal aberration.
In addition, the examination can be indicated for clients who need to verify, specify or supplement already performed examinations (karyotype examination, aminoPCR, aCGH). In particular, these are findings of balanced and unbalanced chromosomal aberrations, chromosome markers and mosaicism.
In case of suspicion of gonosomal mosaics, it is possible to offer the examination to clients with fertility disorders as part of preconception care.
Message delivery date
5-20 working days
Price for FISH examination with 1 labeled probe:
CZK 8,500
Price for examination of each additional probe:
1,500 CZK
Material for examination
Delivered DNA, amniotic fluid, chorionic tissue, fetal blood, aborted tissue, peripheral blood.
The collection of a sample of amniotic fluid, chorionic villi and fetal blood is performed by a specialist doctor after consulting the client with a clinical geneticist. Collection of chorionic villi is usually performed from week 11 to week 15 of pregnancy, collection of amniotic fluid from week 16 to week 21 of pregnancy and collection of fetal blood from week 18 of pregnancy. The doctor collects the aborted tissue during the procedure. The collection of a peripheral blood sample is performed by a healthcare professional after consulting the client with a clinical geneticist.
Samples can be processed without the need for cell culture or cultured.
Description of the examination
ArrayCGH chip technology is a molecular genetic method based on comparative genomic hybridization. Comparative analysis on the chip evaluates the patient’s DNA against reference DNA (healthy man, healthy woman). The probes used represent the whole genome and overlap with clinically relevant syndromes and genes. The results of the hybridization reactions are scanned by a laser scanner and evaluated by software. The method is capable of detecting changes of several tens to hundreds of kilobases.
The method is able to detect changes in the number of copies of whole chromosomes or their parts (deletion/duplication). A number of genetic syndromes are usually associated with submicroscopic deletions or duplications of part of the chromosomes, which are difficult to detect with ordinary cytogenetic examinations. In particular, microdeletion syndromes can be the cause of a number of physical, mental, developmental or reproductive abnormalities (the deletion often affects 1 or more genes necessary for the proper functioning of the organism). ArrayCGH is a reliable tool for detecting these genome-wide changes. Thanks to its high resolution, it detects most syndromes and abnormalities that have not yet been described and whose clinical significance is not yet known.
The method cannot capture point mutations, balanced structural aberrations and low-frequency mosaics. If the last two aforementioned aberrations are suspected, a karyotype examination and examination by the FISH method may be indicated.
ArrayCGH is mainly used in prenatal genetic counseling. In postnatal diagnosis, it contributes to clarifying the results of previous examinations. to establish a diagnosis by detecting known and unknown microdeletion/microduplication syndromes.
Who is the examination intended for as part of prenatal care?
Clients in the gynecologist’s or ultrasound specialist’s clinic who have been found to have:
Abnormal biochemical screening for congenital malformations
Abnormal ultrasound screening for congenital malformations
Intrauterine growth retardation
Older pregnant age (over 35 years)
Genetic load in the family
Carriership of balanced chromosomal aberrations in parents
Repeated spontaneous abortions in the anamnesis of the parents
Who is the examination intended for as part of postnatal care?
The method of first choice in patients with mental retardation, psychomotor retardation, autistic manifestations
Multiple congenital developmental pathologies (physical, mental)
Disorders of metabolism
Genetic load in the family
Clarification of findings from previous examinations
Refinement of the family history of healthy parents with pathologies in offspring or fetus
Clients in whom a normal finding was determined by classical methods and yet abnormalities appear in their phenotype
Message delivery date
5-20 working days / statim 7 working days
Price
25,000 CZK / statim 30,000 CZK
If indicated, other genetic tests can be offered
Description of the examination
The examination is intended to detect the SARS-CoV-2 virus, which causes the highly infectious disease COVID-19 (coronavirus disease 2019).
The disease is mainly manifested by fevers, respiratory problems (cough, shortness of breath), muscle pain and fatigue. A more severe course of the disease is observed in older people or patients with other serious diseases. In these individuals, the disease can lead to death. On the other hand, the disease is progressing in a number of infected people asymptomatically.
The examination is based on the detection of viral RNA in the patient’s sample by performing a molecular examination using the real-time PCR method.
Examination of the patient will confirm/disprove the currently ongoing disease of COVID-19.
The test cannot determine whether the patient has already experienced the disease in the past. The declared sensitivity of the RT-PCR methodology for proving the presence of SARS-CoV-2 virus RNA is 50 copies of the virus in the sample. The sensitivity is fundamentally influenced by the sampling method. Therefore, a necessary condition for achieving the declared sensitivity of the test is a correctly performed sampling (the recommended procedure is a nasopharyngeal swab).
If it is clearly indicated in the request form “REQUEST WITH INFORMED CONSENT FOR SARS-COV-2 TESTING“, the pooling method can be used for the purposes of preventive screening testing. When pooling, a decrease in sensitivity may occur for samples with a limited amount of viral genetic material. The result of the test using the pooling method can be further influenced by the quality of the sample taken, which cannot be guaranteed with the use of pooling technology. A necessary condition for obtaining a valid result is a correctly performed sampling according to the “NASOPHARYNGEAL SWEEPING PROCEDURE“.
Indications for examination
Temperature ≥ 37.5 °C, dry cough, shortness of breath (if these symptoms cannot be explained otherwise)
Material for examination
For examination, a swab from the nasopharynx (accessible through the nasal cavity) is preferred, where the epithelium with ciliated cells is located. A swab from the middle part of the pharynx (accessible through the oral cavity) can be added as supplementary material to the nasopharyngeal swab. Swabs should be immersed in a tube with liquid viral transport medium. The examination can also be performed from a sample of saliva, sputum, BAL, tracheal aspirate or lavage of the oral cavity and pharynx (gargle).
The time from taking the sample to its acceptance by the laboratory must not exceed 24 hours. Samples can be transported at room temperature.
Date of delivery of the examination result
The result of the examination is delivered within 48 hours after receiving the sample in the laboratory.
Price
800 CZK
If indicated, other genetic tests can be offered
Hours of attendance
| Monday | 07:00-17:00 |
| Tuesday | 07:00-17:00 |
| Wednesday | 07:00-17:00 |
| Thursday | 07:00-17:00 |
| Friday | 07:00-17:00 |
Contact
| Head of the laboratory: | Ing. Renáta Chládová |
| Deputy head of the laboratory: | RNDr. Miroslava Krkavcová |
| phone: | 266 315 592 |
| mobile phone: | 773 669 442 |
| e-mail: | laborator@genvia.cz |
Note: Delivery of samples outside office hours is possible by prior arrangement.
Location of the laboratory
Genetic laboratory GENvia, s. r.o. is situated in Praha – Kyje (Prague part Kyje) on the address: Sýkovecká 276/54, 198 00 Praha 9. Information about accessibility of the laboratory including the map you can download and print here.