Main Content

Endocrinology

CGC Mutation Panels

  • Bardet-Biedl Syndrome
  • Noonan Syndrome and other Genetically Related Syndromes

 

Cytogenetics

  • Chromosome analysis of stimulated cultures (peripheral blood)

Molecular Cytogenetics

  • FISH analysis of sexual chromosomes (X/Y)

Molecular Diagnostics

  • 21-Hydroxylase deficiency (frequent mutations and deletion/duplication analysis of CYP21A2 gene)
  • Bardet-Biedl Syndrome (BBS1 gene, M390R mutation)
  • Bardet-Biedl Syndrome (BBS1 gene, M390R mutation), Prenatal
  • Bardet-Biedl Syndrome (See CGC Mutation Panel)
  • Hypercholesterolemia (APOB gene)
  • Hypercholesterolemia (LDLR gene)
  • Mitochondrial Encephalomyopathy (sequence analysis of hot-spots - MELAS syndrome)
  • MODY 1 (sequence analysis of HNF4a gene)
  • MODY 2 (sequence analysis of GCK gene)
  • MODY 3 (sequence analysis of HNF1-a gene)
  • MODY 5 (sequence analysis of HNF1-B gene)
  • Multiple Endocrine Neoplasia type 2 (RET gene)
  • Noonan Syndrome (frequent mutations on PTPN11 gene)
  • Noonan Syndrome (frequent mutations on PTPN11 gene), Prenatal
  • Noonan Syndrome and Other Genetically Related Syndromes (See CGC Mutation Panel)
  • Obesity (susceptibility markers)
  • Osteogenesis Imperfecta type 2, 3, 4 (sequence analysis of COL1A1 and COL1A2 genes)
  • Osteogenisis Imperfecta (sequence analysis of COL1A1 gene)
  • Osteogenisis Imperfecta (sequence analysis of COL1A2 gene)
  • Short Stature (sequence analysis of SHOX gene)
  • Sibutramin susceptibility (GNB3 gene) (under development)