لیست آزمایشات ژنتیک

 

  • Achondroplasia (FGFR3 gene)
  • Albinism
  • ALK mutation
  • Alpha thalassemia
  • BCR ABL Qualitative
  • BCR ABL Quantitative
  • Bernard–Soulier syndrome (GP1BA, GP1BB, GP9 genes)
  • Beta thalassemia
  • Blood Karyotyping
  • Bloom syndrome (BLM gene)
  • BRAF
  • Breast cancer (BRCA1, BRCA2 genes)
  • Canavan disease (ASPA gene)
  • Cell free DNA (NIPT)
  • Charcot-Marie-Tooth disease (PMP22 gene)
  • Congenital adrenal hyperplasia (CAH)
  • Connexin 26 (GJB2 gene)
  • Connexin 30 (GJB6 gene)
  • CVS Karyotyping
  • Cystic fibrosis (CF)
  • Deafness gene panel
  • DiGeorge Syndrome (DGS)
  • Dio NGS
  • DNA profiling (DNA testing)
  • Duchenne muscular dystrophy (DMD)
  • EGFR mutation
  • Factor V
  • Factor VII
  • Factor X
  • Factor XI
  • Familial adenomatous polyposis (APC gene)
  • Familial Mediterranean fever (FMF) disease
  • Fragile X
  • Friedreich ataxia (FRDA)
  • Gender Determination
  • Haemophilia A
  • Haemophilia B
  • Hereditary diffuse gastric cancer (CDH1 gene)
  • Hereditary hemochromatosis (HFE)
  • Huntington disease (HD)
  • Interphase FISH
  • Inversion 22 hemophilia
  • JAK2
  • Karyotyping Amnion (Amniocentesis)
  • KRAS mutation
  • Large NGS
  • Li-Fraumeni Syndrome (TP53 gene)
  • Metaphase FISH
  • Micro array
  • Myotonic dystrophy (MD)
  • NRAS mutation
  • Osteopetrosis (CLCN7 gene)
  • PGD Sex determination
  • PGS
  • Phenylketonuria (PKU)
  • Prayer Willi -Angelman Syndrome
  • prothrombinemia (Factor II)
  • QF PCR
  • RET gene
  • Retinoblastoma (RB1 gene)
  • Severe combined immunodeficiency disease (SCID) – (ADA gene)
  • Sickle Cell Anemia
  • Sjögren-Larsson syndrome (ALDH3A2 gene)
  • Small NGS
  • Smith–Lemli–Opitz syndrome (SLOS) – (DHCR7 gene)
  • Solid Karyotyping
  • Spinal muscular atrophy (SMA)
  • Spinocerebellar ataxia (SCA)
  • SRY
  • Thrombophilia Panel (MTHFR, Factor V Leiden, PAI-1, FII)
  • Trio NGS
  • Von Hippel–Lindau disease (VHL)
  • Williams syndrome
  • Wiskott–Aldrich syndrome (WAS)
  • Wolfram Syndrome (WFSI gene)
  • Y chromosome microdeletion (AZF)