METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other

Gastrointestinal

CMA

Alagille Syndrome

Autoimmune Disease

Autoimmune Lymphoproliferative Syndrome

Celiac Disease

Cholestasis

Colorectal Cancer

Cystinuria

Disorders of Fatty Acid Oxidation

Familial Adenomatous Polyposis

Glycogen Storage Disease

Hepatolenticular Degeneration

Hirschsprung Disease

Liver Failure

Lynch Syndrome

Neuroblastoma

Niemann-Pick Disease

Pancreatic Cancer

Pancreatitis

Peutz-Jeghers Syndrome

Polycystic Liver Disease (PCLD)

Rotor Syndrome

Wilms Tumor

Wilson Disease

METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other