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Categorical order

Gastroenterologic disorders
Disease Gene OMIM TAT in weeks
Alagille Syndrome      
- NOTCH2 600275 2-4
Alagille syndrome3      
- JAG1 601920 2-4
Chloride Diarrhea, congenital3 SLC26A3 126650 3-4
Crigler-Najjar syndrome UGT1A1 191740 4-5
Cystinuria      
type 1 SLC3A1 104614 2-4
type 2 and 3 SLC7A9 604144 2-4
Morbus Crohn NOD2/CARD15 605956 2-4
cholestasis, progressive familial intrahepatic1,3      
type 1 ATP8B1 602397 2-4
type 2 ABCB11 603201 2-4
type 3 ABCB4 171060 2-4
type 4 TJP2 607709 2-4
multiple intestinal atresia* TTC7A 609332 4-5
non-alcoholic fatty liver disease (NAFLD) PNPLA3 999999 1-2
pancreatitis, hereditary      
pancreatitis, hereditary PRSS1 276000 3-4
pancreatitis, hereditary SPINK1 167790 3-4
tufting enteropathy, congenital      
- EPCAM 185535 4-8

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¹ We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us.
² We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested.
³ Step-by-step analysis
All Analysis are carried out ‚Äčin Ingelheim, exceptions are those marked with *, which are carried out in ‚Äčcollaborating laboratories.

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