Center for Medical Genetics Ltd – Specialized Center for Prenatal Diagnosis
Karel Čutka, MD, David Čutka, MD, Novohradská 68/1806, České Budějovice

Molecular genetic and molecular cytogenetic (FISH) testing

• Blood testing:
• • Trisomy of chromosomes 13, 18, 21 (Patau syndrome, Edwards syndrome, Down syndrome)
  • translocation – a part of one chromosome gets attached to another chromosome
  • marker
  • mosaicism – defect occurs only in parts of cells
  • microdeletion syndromes
  • DiGeorge syndrome
  • Prader-Willi/Angelman syndrome
  • Williams syndrome
• Testing of trombophilic conditions – hereditary blood coagulation disorder