Gastrointestinal & Liver
Product NameApplicationRegion
ME011-MMR Mismatch repair genes (MMR) MLH1, MSH2, MSH6, MLH3, MSH3, PMS2, MGMT
ME042-CIMPbasic research CpG Island Methylator Phenotype Various
P003-MLH1/MSH2CE Lynch Syndrome MLH1 3p22.2, MSH2 2p21
P008-PMS2CE Lynch Syndrome PMS2 7p22
P043-APCCE Hereditary Polyposis Colon Cancer APC, 5q21-q22
P072-MSH6 Lynch Syndrome MSH6
P083-CDH1CE Hereditary diffuse gastric cancer CDH1 at 16q22.1
P098-Wilson Wilson disease ATP7B 13q14.3
P101-STK11CE Peutz-Jeghers syndrome (PJS) STK11 19p13.3
P109-ABCB4 Drug-transport pump ABCB4 7q21,1
P158-JPS Juvenile polyposis syndrome (JPS) BMPR1A 10q23, SMAD4 18q21, PTEN 10q23
P169-Hirschsprung-1 Hirschsprung disease, or Aganglionic Megacolon RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2
P184-JAG1 Alagille Syndrome (ALGS) JAG1 20p12.2
P242-Pancreatitis Hereditary Pancreatitis (HP) PRSS1 7q34, SPINK1 5q32
P248-MLH1-MSH2 Confirmation Lynch Syndrome MLH1 3p21.3, MSH2 2p21
P318-Hirschsprung-2 Hirschsprung disease PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN, SOX10
P341-PKHD1 mix 1 Autosomal Recessive Polycystic Kidney Disease (ARPKD) PKHD1
P342-PKHD1 mix 2 Autosomal Recessive Polycystic Kidney Disease (ARPKD) PKHD1
P347-Hemochromatosis Hereditary hemochromatosis (HH) HFE, SLC40A1, TFR2, HFE2, HAMP
P378-MUTYH Colon cancer, stomach cancer (hereditary) 1p34 and 15q13
P393-SLC26A3 Congenital Chloride Diarrhoea SLC26A3 7q31.1
P394-MYO5B Microvillus Inclusion Disease (MVID) MYO5B 18q21.1
P411-Porphyria mix 1 Porphyrias ALAD, HMBS, PPOX
P412-Porphyria mix 2 Porphyrias FECH, UROS, UROD, CPOX
P438-HLA Celiac Disease, HLA-DQ2.5 HLA-DQ8 HLA-DQ2.2 6p21.32
P458-Gastric cancer Gastric cancer various
P459-SERPINA1 Alpha-1-antitrypsin (AAT)-deficiency 14q32.13
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