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MicroGen Gastroenterology

Gastroenterology is a medical specialty focused on diagnosing and treating diseases of the digestive system. This includes organs such as the stomach, intestines, liver, pancreas, gallbladder, and esophagus. Many of these conditions have a genetic component, and recent advancements have allowed for the identification of specific genes linked to these diseases. Genetic testing is now available to diagnose affected individuals and identify at-risk family members before symptoms develop.

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Understanding Inherited Gastroenterological Disorders

Inherited gastroenterological disorders are conditions passed down through families due to genetic mutations. These conditions can affect various parts of the gastrointestinal (GI) tract, leading to a range of symptoms and complications. Below are some of the key inherited gastroenterological disorders, grouped by related categories:

  • Liver and Biliary Disorders - Conditions like Alagille Syndrome, Cholestasis-Related Conditions, Congenital Hepatic Fibrosis, Polycystic Liver Disease, Wilson Disease etc.
  • Pancreatic Disorders - Conditions like Hereditary Pancreatitis
  • Gastrointestinal Structural Disorders - Conditions like Gastrointestinal Atresia, Hirschsprung Disease etc.
  • Metabolic and Digestive Disorders - Conditions like Tyrosinemia, Congenital Diarrhea etc.

When to Consider Gastroenterology Genetic Testing

Genetic testing for gastroenterology is typically recommended in the following situations:

  • Family History of GI Disorders - If there is a family history of gastrointestinal (GI) disorders.
  • Persistent Symptoms - If you are experiencing symptoms such as chronic abdominal pain, diarrhea, blood in the stool, or unexplained weight loss.
  • Understanding Genetic Factors - If you have been diagnosed with a GI disorder and would like to understand the genetic factors that may be contributing to your condition.
  • Family Planning -  If you are planning to start a family and have a known genetic predisposition to GI disorders.