Main Content

Cardiology

CGC Mutation Panels

  • Noonan Syndrome and other Genetically Related Syndromes
  • Thrombophilia and Warfarin Pharmacogenetics

Molecular Cytogenetics (Detection by FISH)

  • Detection by FISH of DiGeorge Syndrome
  • Detection by FISH of Williams Syndrome

Molecular Diagnostics

  • Alström Syndrome (ALMS1 gene)
  • Becker Muscular Dystrophy (DMD gene)
  • CADASIL (gene NOTCH3, exons 2 to 6 and 11)
  • Cardiofaciocutaneous Syndrome (frequent mutations of BRAF gene)
  • Costello Syndrome (frequent mutations of HRAS gene)
  • Dilated Cardiomyopathy (frequent mutations of LMNA, MYH7 and TNNT2 genes)
  • Dilated Cardiomyopathy (X-linked, deletion/duplication analysis of DMD gene)
  • Dilated Cardiomyopathy (X-linked, sequence analysis of TAZ gene)
  • Duchenne Muscular Dystrophy (MLPA DMD gene)
  • Fabry disease (GLA gene)
  • Fragile X Syndrome
  • Gaucher disease (GLA gene)
  • Hereditary Hemochromatosis (frequent mutations of HFE gene)
  • Holt-Oram Syndrome (sequence analysis of TBX5 gene)
  • Hypercholesterolemia (LDLR and APOB genes)
  • Hypertrophic Cardiomyopathy (MYH7, MYBPC3, TNNT2 and TNNI3 genes)
  • LEOPARD Syndrome (frequent mutations of PTPN11 gene)
  • Long QT Syndrome (sequence analysis of KCNE1 gene)
  • Long QT Syndrome (sequence analysis of KCNH2 gene)
  • Long QT Syndrome (sequence analysis of KCNQ1 gene)
  • Long QT Syndrome (sequence analysis of SCN5A gene)
  • Marfan Syndrome (sequence analysis of FBN1, TGFBR1 and TGFBR2 genes)
  • Neurofibromatosis type I (deletion/duplication analysis of NF1 gene)
  • Neurofibromatosis type I (sequence analysis of NF1 gene)
  • Noncompaction of Left Ventricular Myocardium (TAZ gene, G4.5)
  • Noonan Syndrome (frequent mutations of PTPN11 gene)
  • Clopidogrel (Plavix®) pharmacogenetics
  • Spinal Muscular Atrophy (deletion/duplication analysis of SMN1 and SMN2 genes)
  • Spinal Muscular Atrophy (sequence analysis of SMN1 gene)
  • Steinert disease or Myotonic Dystrophy
  • Thrombophilia markers (Antithrombin III, sequence analysis of SERPINC1 gene)
  • Thrombophilia markers (APOE; alleles 2, 3 and 4)
  • Thrombophilia markers (Factor II, G20210A)
  • Thrombophilia markers (Factor V Leiden, R506Q)
  • Thrombophilia markers (FGB, -455G/A)
  • Thrombophilia markers (ACE, ins/del)
  • Thrombophilia markers (MTHFR, C677T and A1298C)
  • Thrombophilia markers (PAI-1, 4G/5G)
  • Thrombophilia markers (Protein C deficiency, sequence analysis of PROC gene)
  • Thrombophilia markers (Protein S deficiency, sequence analysis of PROS1 gene)
  • Thrombophilia and Warfarin Pharmacogenetics
  • Tuberous Sclerosis (sequence analysis of TSC1 and TSC2 genes)
  • Tuberous Sclerosis (sequence analysis of TSC1 gene)
  • Tuberous Sclerosis (sequence analysis of TSC2 gene)