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Cardiovascular diseases

Predictive genetic testing of heart diseases is the use of a genetic test in an asymptomatic person to predict future risk of developing a heart disease. These tests represent a new and growing class of medical approaches, differing in fundamental ways from conventional medical diagnostic tests. The hope underlying such testing is that early identification of individuals at risk for a specific cardiovascular condition will lead to reduced morbidity and mortality through targeted screening, surveillance, and prevention. These types of tests are used to detect gene mutations associated with heart diseases that usually manifest after birth, often later in life.


Thrombophilia

  • All hereditary Thrombophilias and coagulopathies
  • Thrombophilia (F2 Prothrombin – 20210G>A, FV Leiden – c.1601G>A)
  • Thrombophilia and folate metabolism ((F2 20210G>A, F5 Leiden, МTHFR C677T and A1298C)
  • MTHFR mutations (C677Т и А1298C)
  • Additional thrombophilia tests -anti-CARDIOLIPIN IgM, anti-CARDIOLIPIN IgG, anti-CARDIOLIPIN IgA, anti-β2 GLYCOPROTEIN-1 IgM, anti-β2 GLYCOPROTEIN-1 IgG, anti-β2 GLYCOPROTEIN-1 IgA, Lupus Anticoagulant screen/confirm – LA, Activated PC resistance – A-PCR, Protein-C, Protein-S, Antithrombin III

Cardiovascular genetic diseases

  • Arrhythmias
  • Cardiomyopathies and muscular diseases
  • Aortopathies and connective tissue disorders
  • Familial hypercholesterolaemia
  • Hereditary pulmonary hypertension
  • Congenital heart disease and polymorphisms
  • Bone marrow disease
  • Haemochromatosis

Types of tests

  • Whole genome sequencing (x30) – all genes and intergenic regions
  • Whole exome sequencing (x100) – all protein-coding genes
  • Clinical exome sequencing – ~5000 clinically relevant genes
  • Gene panels
  • Real Time PCR
  • Strip technology