Product Name

Application

Region

ME011-MMR

Mismatch repair genes (MMR)

MLH1, MSH2, MSH6, MLH3, MSH3, PMS2, MGMT

ME042-CIMP

(basic research)

CpG Island Methylator Phenotype

Various

P003-MLH1/MSH2 CE

Lynch Syndrome

MLH1 3p22.2, MSH2 2p21

P008-PMS2

Lynch Syndrome

PMS2 7p22

P043-APC

Hereditary Polyposis Colon Cancer

APC, 5q21-q22

P072-MSH6

Lynch Syndrome

MSH6

P083-CDH1

Hereditary diffuse gastric cancer

CDH1 at 16q22.1

P098-Wilson

Wilson disease

ATP7B 13q14.3

P101-STK11

Peutz-Jeghers syndrome (PJS)

STK11 19p13.3

P109-ABCB4

Drug-transport pump

ABCB4 7q21,1

P146-CRC GAIN

(basic research)

Colon cancer

Various

P158-JPS

Juvenile polyposis syndrome (JPS)

BMPR1A 10q22, 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

P413-CRC LOSS

(basic research)

Colorectal adenoma/carcinoma

8p, 15q, 17p, 18q

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