Genetic analyses for hereditary gastroenterological diseases

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
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)
R Recurrent acute liver failure
T Transport disorders in hepatocytes and cholangiocytes 
W Wilson disease
  * Analysis provided by a group partner laboratory

Our service portfolio for hereditary gastroenterological diseases can be downloaded here.

You can find our request form for molecular genetic diagnostics here.

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