Genetic conditions with gastrointestinal involvement can pose serious complications to individuals at various ages. As the first diagnostic laboratory to offer next generation sequencing for CFTR, a gene implicated in pancreatitis (associated with cystic fibrosis), Ambry has a longstanding commitment to inherited gastrointestinal disorders. Several flexible molecular testing options are available to aid in diagnostic assessment, confirmation, and identification of at-risk family members.

Ambry has a comprehensive testing menu for numerous inherited disorders, suitable for many medical subspecialties. Our responsible adoption of new technologies, helpful customer service, and clear results interpretation make us an ideal partner to help you find the answer for your patients and their families. Below, our testing for disorders with gastrointestinal involvement is listed, with links for more details.

Condition Name Gene(s) TAT (days)
Alagille syndrome JAG1 14-28
Alpha-1 antitrypsin deficiency SERPINA1 14-28
Cystic fibrosis CFTR 5-14
Hereditary angioedema SERPING1 14-28
Hirschsprung disease, RET-related RET 7-28
Juvenile polyposis BMPR1A, SMAD4 7-35
Pancreatitis PRSS1, SPINK1, CFTR, CTRC 14-28
Peutz-Jeghers syndrome STK11 7-21
Wilson disease ATP7B 14-28


You can view a complete listing of Ambry’s testing options organized by disease here, and by gene here