Gastrointestinal disorders occur with a high prevalence in the population and encompass a very broad spectrum of conditions. In recent years, it has become apparent that many of these disorders have underlying genetic causes. Genetic diagnosis of these diseases can enable a better progression assessment and a more targeted treatment approach. In addition, genetic testing allows to identify asymptomatic family members at risk, providing a starting point for appropriate screening and early diagnosis.
A | Alagille syndrome (ALGS) |
Alpha-1 antitrypsin deficiency * | |
Arthrogryposis renal dysfunction (ARC Syndrome) | |
Autosomal dominant polycystic kidney disease (ADPKD) | |
Autosomal dominant polycystic liver disease (ADPLD) | |
Autosomal recessive polycystic kidney disease (ARPKD) | |
B | Benign recurrent intrahepatic cholestasis (BRIC) |
Bile acid synthesis defects | |
C | Congenital hepatic fibrosis (CHF) |
Crigler-Najjar syndrome (CNS) * | |
Cystic fibrosis * | |
F | Familial intrahepatic progressive cholestasis (PFIC) |
Fanconi-Bickel syndrome | |
G | Glycogen storage diseases (GSD) |
Gilbert´s syndrome | |
H | Hemochromatosis * |
Hereditary pancreatitis | |
Heterotaxia | |
J | Joubert syndrome |
L | Liver organ morphogenesis disorders |
Lynch syndrome | |
M | Meckel-Gruber syndrome |
Meulengracht disease * | |
Mitochondrial Hepatopathies | |
Multiple endocrine neoplasia (MEN1) * | |
P | Polycystic liver disease (PCLD) |
Polyposis | |
R | Recurrent acute liver failure |
T | Transport disorders in hepatocytes and cholangiocytes |
W | Wilson disease |
* Analysis provided by a group partner laboratory |