{"id":7417,"date":"2024-02-05T20:46:27","date_gmt":"2024-02-05T19:46:27","guid":{"rendered":"https:\/\/genetika-plzen.nullable.group\/?page_id=7417"},"modified":"2025-09-14T04:21:42","modified_gmt":"2025-09-14T02:21:42","slug":"molekularni-laborator","status":"publish","type":"page","link":"https:\/\/genetika-plzen.nullable.group\/en\/molekularni-laborator\/","title":{"rendered":"Molecular-genetic laboratory"},"content":{"rendered":"
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Our laboratory was founded in 2003. Since that time we have continued to expand both in terms of personnel and equipment as well as the spectrum of performed methods.<\/p>\n\n

Due to the quality of the instruments in our laboratory we are able to perform molecular genetic examinations in accordance with the latest diagnostic trends. We carry out detection of known mutations using PCR, or Real Time PCR and detection of mutations using direct sequencing to diagnose monogenic hereditary diseases. We also perform quick diagnostics of the most common aneuploidies from native amniotic fluid using multiplex QF PCR. We ensure transfer of the samples for DNA examination of various hereditary diseases to various departments in the Czech Republic, and if needed abroad.<\/p>\n\n

We can offer determination of paternity (or maternity, parity) including expert opinions. The expert opinions are done at the request of the court, authorities involved in criminal proceedings and private persons.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Our laboratory is accredited according to \u010cSN EN ISO 15189.<\/strong><\/p>\n\n

We successfully take part in annual external quality audits.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Dokumenty<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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List of performed methods<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tExamination of aneuploidies using QF-PCR<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

QF PCR (Quantitative Fluorescent Polymerase Chain Reaction) testing serves as a rapid diagnostic tool for the most common aneuploidies and uniparental disomy of autosomal chromosomes (13, 18, 21, 15, 16, 22) and sex chromosomes (X, Y). This involves the analysis of specific STR loci using PCR and subsequent fragment analysis through capillary electrophoresis.<\/p>

Detection of hereditary diseases primarily includes Down, Edward, Patau, Klinefelter, Turner, Jacob (supermale, XYY), triple X (superfemale, XXX) syndromes, and polyploidies.<\/p>

Aneuploidy testing can be performed on amniotic fluid, chorionic villi, fetal blood, and miscarried fetal tissue. It is followed by cytogenetic analysis of all chromosomes<\/a>.<\/p>

Indications for testing<\/em>positive atypical or borderline first and second trimester screening, overall genetic risk for the fetus above 10%, abnormal ultrasound findings, combination of multiple risk factors.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t

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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tExamination of the most common mutations causing cystic fibrosis<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

Cystic fibrosis (mucoviscidosis) is a multisystem autosomal recessive genetic disorder that, in its classic form, manifests as respiratory tract and lung disease, pancreatic exocrine insufficiency, high sweat electrolyte levels, and male infertility. It is caused by mutations in the CFTR gene. The incidence in the Czech population is 1:4500, with a carrier frequency of 1:34 (Votava F. et al., 2014).<\/p>

Our laboratory tests for 68 mutations in the CFTR gene and determines polymorphism in intron 8 (Tn variants). The mutations tested represent 96% of the causal mutations in the CFTR gene in the Czech population. Excluding these mutations reduces the probability of carrying a mutation in the CFTR gene to 1:847 (0.118%). The test can detect both asymptomatic carriers (heterozygotes) and affected individuals (homozygotes). Here you can find the List of Reference Sequences<\/a>.\u00a0<\/span><\/p>

Indications for testing<\/em>patients with symptoms of cystic fibrosis, relatives of a patient with cystic fibrosis and detected CFTR mutations, partner of a mutation carrier before planned pregnancy or during pregnancy, adult males with infertility issues, prenatal diagnosis in case of partners heterozygous for a CFTR gene mutation, preconception screening, gamete donors.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t

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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tExamination of the most common microdeletions of the AZF region on the Y chromosome<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

Analysis of the AZF region (azoospermic factors) on the long arm of the Y chromosome (Yq) is divided into AZFa, AZFb, and AZFc. The genes located in this region are involved in spermatogenesis and are essential for male reproduction. Depending on which azoospermic factor is missing, men may experience oligozoospermia (reduced sperm count in ejaculate) to azoospermia (absence of sperm in ejaculate). Testing of STS loci on Yq detects approximately 90% of deletions in the AZF regions.<\/p>

Indications for testing<\/em>: male fertility disorder - poor spermiogram parameters<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t

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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tExamination of the most common mutation causing Nijmegen breakage syndrome<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

The test is conducted to detect the c.657-661del mutation, a deletion of five nucleotides, in the NBN gene. This mutation, in a homozygous state, is responsible for Nijmegen breakage syndrome (NBS), also known as Seemanov\u00e1 syndrome. NBS is a rare autosomal recessive DNA repair disorder. It is a chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and a predisposition to malignancies. An increased incidence of malignancies also affects heterozygous carriers. Patients with NBS are hypersensitive to ionizing radiation. This mutation is more common in the Slavic population, with a carrier frequency of 1:100-150.<\/p>

Indications for testing<\/em>suitable for patients with clinical manifestations of microcephaly, chromosomal instability, growth retardation, increased frequency of malignancies in family history (especially lymphomas and leukemias), reduced levels of IgG and IgA in serum.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t

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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tExamination of the most common mutations responsible for haemochromatosis<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

Hemochromatosis is a disorder of iron storage that results in its accumulation in parenchymal cells. As the disease progresses, it leads to extensive tissue damage, diabetes mellitus, liver cirrhosis, hepatocellular carcinoma, heart failure, arthritis, and pigmentation. The first symptoms often appear between the ages of 40 and 50. It is an autosomal recessive disorder.<\/p>

We detect the most common mutations c.845G>A (C282Y) and c.187C>G (H63D) in the human HFE gene using allele-specific PCR. The test can detect both asymptomatic carriers (heterozygotes) and affected individuals (homozygotes).<\/p>

Indications for testing<\/em>: liver fibrosis or cirrhosis, cardiomyopathy, pancreopathy, diabetes, arthropathy, skin pigmentation.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t

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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tExamination of the most common thrombophilic mutations<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

Thrombophilia is a tendency toward increased blood clotting, where there is an elevated risk of blood clot formation (thrombi), which can lead to partial or complete blockage of blood vessels, most commonly in the lower limbs. A part of the clot can dislodge, travel through the venous system, and after passing through the heart, block one of the pulmonary vessels, resulting in a pulmonary embolism. We examine two mutations in the F5 and F2 genes. These genes encode the proteins factor V and factor II, which play a significant role in the blood clotting process. The mutation in the F5 gene is called Leiden <\/b>(FV Leiden \u2013 G1691A). In the Czech population, 5-10% are carriers of this mutation in a heterozygous state (one mutated allele), which increases the risk of thromboembolic disease approximately 7-fold. In the case of homozygotes (both alleles mutated), the risk increases about 20-fold. The second mutation is the Prothrombin mutation in the F2 gene. Heterozygotes in the population are approximately 2-3% and increase the risk of thrombosis about 3-fold. In homozygotes, it is up to 18-fold.<\/p>

Indications for testing:<\/em><\/p>