Division of Molecular Genetics

Head of the Division: István Balogh, PhD
Chief Technologist: Éva Kálmánchey Gombos

TThe Molecular Pathology division of the department was established in 1995. At the beginning the DNA analysis panel of severe inherited disorders was introduced, which was extended with the analysis of different genetic risk factors and pharmacogenetic testing. The division provides genetic testing in three main areas:

1. Molecular genetic analysis of severe inherited diseases (cystic fibrosis, Duchenne/Becker muscular dystrophy, hemochromatosis, Smith-Lemli-Opitz syndrome, Niemann-Pick disease type C, autosomal recessive polycystic kidney disease, MODY, neonatal diabetes, etc).

2. Molecular genetic analysis of inherited risk factors predisposing to different multifactorial diseases (thrombosis risk factors, hyperlipidemic risk factors).

3. Pharmacogenetic testing (CYP2C9, TPMT, UGT1A1, VKORC1). In the routine diagnostic procedures a number of different methods are used (blotting techniques, allele-specific PCR, fluorescent real-time PCR methods, automated DNA sequencing and fragment analysis).

Our division performs more than 5000 analyses annually. We participate in different international quality control schemes. The detailed order form of the Molecular Genetics Division can be downloaded from our web page. We accept samples nationwide and under special circumstances from abroad as well.