Gastroenterology

CGC Mutation Panels

Acute Intermittent Porphyria (HMBS gene)
Alpha-1 Antitrypsin (genotyping)
Carnitine Palmitoyltranferase II deficiency (mutations on CPT2 gene)
Celiac disease (HLA-DQ/DR)
Colorectal Cancer Screening (methylation analysis of SEPT9 gene) Not available for the USA
Crigler-Najjar Syndrome (frequent mutations on UGT1A1 gene)
Crohn disease (NOD2 gene)
Cystic Fibrosis (frequent mutations of CFTR gene)
Cystic Fibrosis (sequence analysis of CFTR gene)
Familial Adenomatous Polyposis (APC gene)
Familial Mediterranean Fever (frequent mutations of MEFV gene)
Fructose intolerance (ALDOB gene)
Gastric cancer (mutations on KRAS gene)
Gilbert Syndrome (frequent mutations on UGT1A1 gene)
Hepatorenal Tyrosinemia (mutations on FAH gene) See CGC Mutation Panel
Hereditary Hemochromatosis (frequent mutations of HFE gene)
Hereditary Non-polyposis Colorectal Cancer, type 1 and 2 , HNPCC (deletion/duplication analysis of MLH1 and MSH2 genes)
Hereditary Non-polyposis Colorectal Cancer, type 1 and 2 , HNPCC (sequence analysis of MLH1 and MSH2 genes)
Lactose intolerance (gene MCM6)
Microsatellite Instability in Colorectal Cancer
Susceptibility to inflamatory bowel disease (Crohn disease and ulcerative colitis)
Thrombophilia and Warfarin Pharmacogenetics See CGC Mutation Panel
Wilson disease (ATP7B gene)