Molecular Laboratory

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.

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.

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.

Our laboratory is accredited according to ČSN EN ISO 15189.

We successfully take part in annual external quality audits.

List of performed methods

• Examination of hereditary thrombophile disorders
  - Leiden mutation FV (G1691A)
  - Mutation in the gene for Prothrombin FII (G20210A)
  - Mutation in the gene for MTHFR (C677T)
  - Mutation in the gene for MTHFR (A1298C)
• Examination of polymorphism 4G/5G PAI-1
• Amnio QF PCR
• CFTR gene mutation
• Microdeletion of Y chromosome
• Gilbert’s syndrome
• Haemochromatosis
• Fragile X chromosome syndrome
• Direct sequencing of BRCA1 and BRCA2 gene
• NBS (Nijmegen breakage syndrome)
• Connexin 26- mutation 35delG, W24X
• Predisposition alleles for coeliac disease
• Lactose intolerance