Genetics
Molecular genetic methods used in medical genetics include PCR, enzyme analysis and next-generation sequencing (NGS). Assays based on these methods allow diagnosing diseases at early stages and prescribe a more effective therapy through an individualized approach to medicine and dosage selection.
PCR diagnostics in various fields of medicine
Capabilities of PCR method allow for its application across various fields of medicine, from detecting single nucleotide polymorphisms to identifying major chromosomal abnormalities.
In pregnancy planning, PCR testing can identify asymptomatic carriage of mutations that may manifest in children. This is particularly important to consider in cases with a family history of hereditary diseases. PCR diagnostics can also be employed to detect deletions in the Azoospermia Factor (AZF) locus, which is a contributing factor to male infertility.
The PCR method is widely used in prenatal screening, primarily for non-invasive analysis of fetal DNA from maternal blood. PCR-based testing can determine fetal sex and Rhesus (Rh) factor as early as 10 weeks of gestation. Using Next-Generation Sequencing (NGS), non-invasive screening for aneuploidies and other chromosomal abnormalities is possible, while fragment analysis is used to confirm a diagnosis following an invasive procedure.
PCR is effectively utilized for analyzing genetic polymorphisms, enabling assessment of individual predisposition to specific diseases, including cardiovascular, oncological, and metabolic disorders. It also identifies genetic polymorphisms that may influence metabolism of drugs such as warfarin and clopidogrel. This information facilitates the prescription of an optimal drug dosage for a specific patient, minimizing the risks of bleeding and thrombosis.
In oncogenetics, PCR diagnostics can be applied both to determine the risk of developing hereditary forms of cancer and to guide targeted therapy for patients. Timely detection of mutations in the BRCA1 and BRCA2 genes enables the identification of risks for developing malignancies, including hereditary forms of breast and ovarian cancer, as well as tumors of prostate and pancreas, and allows for an individualized approach to therapy selection. Determining the spectrum of mutations in the EGFR gene is crucial for prescribing tyrosine kinase inhibitor therapy to patients with non-small cell lung cancer.
List of PCR studies
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Hemostasis
The Hemostasis test is designed to detect polymorphisms of genes associated with the risk of dyscrasia (bleeding, thrombosis).
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Calcium Metabolism
A test for detecting vitamin D receptor (VDR) 283 A>G gene polymorphism affecting calcium metabolism in the human body.
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BRCA Mutations
A test for mutations in BRCA1 (185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, 300 T>G (Cys61Gly), 2080delA) and BRCA2 (6174delT) genes associated with a risk of developing oncopathology.
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NeoScreen SMA/TREC/KRECThe test designed for detection of homozygous deletion of exon 7 of the SMN1 gene and relative quantification of T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) for the purpose of screening for spinal muscular atrophy and primary immunodeficiencies. Learn more
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EGFR
A test for detecting somatic mutations in the EGFR gene (deletions and insertions in exon 19, insertions in exon 20, L858R, T790M, L861Q, S768I and G719X mutations) in tumor samples of non-small-cell lung cancer patients by real-time PCR.
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IL28B (Immunogenetics)
A test for detecting polymorphisms associated with IL28B function by real-time PCR. The obtained results can be used to aid therapy selection in cases of viral hepatitis C.
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Folate Metabolism
A test for detecting gene polymorphisms associated with a risk of developing folate cycle disorders. The reagent kit is designed to detect polymorphisms of MTHFR (methylenetetetrahydrofolate reductase, 677 C>T and 1298 A>C), MTR (methionine synthase, 2756 A>G), and MTRR (methionine synthase reductase, 66 A>G) genes.
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Lactose Intolerance
A test for detecting 13910 T>C polymorphism in MCM6 gene associated with lactose intolerance using real-time PCR.
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AZF Microdeletions
A test for detecting deletions in the AZF locus by polymerase chain reaction.
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Warfarin Pharmacogenetics
A test for detecting genetic polymorphisms of VKORC1: -1639 G>A, CYP2C9: 430 C>T, CYP2C9: 1075 A>C and CYP4F2: 1347 C>T affecting warfarin metabolism.
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Clopidogrel Pharmacogenetics
A test for detecting genetic polymorphisms ABCB1: 3435 C>T, CYP2C19*2 (CYP2C19: 681 G>A), CYP2C19*3 (CYP2C19: 636 G>A) CYP2C19*17 (CYP2C19: -806 C>T) associated with clopidogrel metabolism.
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Please note that the specialists of the DNA Technology company provide consultations exclusively to medical specialists on the application and research features. Requests related to the appointment, delivery, or interpretation of tests are not considered. For relevant information, we recommend contacting the laboratory directly.