GENETIC DISEASES - MOLECULAR BIOLOGY

Genetic diseases

Genetic diseases are diseases caused by gene mutations or chromosomal abnormalities. These mutations are often passed from generation to generation, causing disorders in the structure and function of the body.

Genetic testing information

NGS technique

• HLH Gene Panel (20 genes)
  4 HLH genes (Perforin, UNC13D, STX11, STXBP2)
  BRCA1 and BRCA2 gene mutations
  3 genes (LDLR, APOB, PCKS9)
  3 genes (WT1, NPHS2, NPHS1)
  2 genes (FGFR2, FGFR3)
  Noonan syndrome (PTPN11, RAF1, SOS1,...)
  4 genes (BTK, WAS, IL2RG, ADA)

Sanger technique

• F7 Gene Mutation
  F8 Gene Mutation
  F9 Gene Mutation
  F12 Gene Mutation
  F13 Gene Mutation

Other techniques

• Factor VIII gene mutation (introns 1 & 22)
  HLA-B*27 (Ankylosing spondylitis)

Genetic Disease Testing Price List Information