We routinely carry out molecular genetic testing for:

• Trombophilic conditions (hereditary disorder – heightened blood coagulability):
  a gene for Factor V Leiden, and a gene for Factor II Prothrombin are tested

Indication for testing: occurrence of a deep vein thrombosis in a family anamnesis in first-degree and second-degree relatives, or in a personal anamnesis

Carriage of defective genes for Factor V Leiden and Factor II Prothrombin contra-indicates (is not recommended with) a combined hormonal contraception and menopausal hormones. Patients with positive Leiden or Prothrombin mutation should be monitored by a haematologist.

• Hyperhomocysteinemia
  we test the MTHFR gene (methylenetetrahydrofolate reductase)
  According to the literature available, carriage of the MTHFR gene – presence of two mutated alleles of the MTHFR gene increases the risk of atherosclerosis. This is caused by an increased homocysteine level – on lipids of an independent atherosclerosis factor. For preventive measures it is recommended to take (for a lifetime) acidum folicum (folic acid) in doses of 400 ug – 500 ug per day or to increase the intake of folic acid with an adequate diet (vegetables).
• Microdeletion in the Y chromosome (MYC)
  this testing is recommended for determination of male infertility factors
• Cystic Fibrosis – CF (mucoviscidosis – serious disease of the lungs and the gastrointestinal tract in children) – testing of 36 most common mutations, parents are tested in order to find out whether they are both carriers of the disease. Only a child which inherits a defective gene from both parents (carriers) is affected by the disease.
Main indications:
• Infertile couples with a male infertility factor
• Egg donors in the egg and sperm donation program
• Ultrasound-detected congenital anomaly or another pathology of a fetus

Other tested genetic disorders

• Autosomal dominant polycystic kidney disease PKD
• Deafness – mutation in the Connexin 26 gene
• Duchenne myopathy

In CMG we always have a genetic counseling with a patient; if needed we get blood samples and isolate DNA. DNA is tested in a molecular-genetic laboratory of CMG or we provide transportation and testing in other centers.