Genetic liver disease

Prevent organ damage through early identification of underlying genetic cause

Identifying underlying genetic disorders plays an important role in the treatment and care of patients with liver disease. Appropriate use of screening tests in routine clinical practice can rule out possible causes of liver disease and assist in early identification and treatment of genetic liver diseases to prevent terminal organ damage.

Genetic liver disease Test menu

Alpha-1-antitrypsin deficiency

Our state-of-the-art proteotype assessment detects disease-causing variants S and Z.

Key testing


Our comprehensive, next-generation sequencing panel detects for variations in 112 genes associated with cholestasis.

Key testing



After local lab testing has identified individuals with increased transferrin-iron saturation in serum and serum ferritin, molecular testing can be done to establish or confirm the diagnosis of hereditary hemochromatosis.

Key testing


For patients who present with hepatosplenomegaly, which typically occurs as a result of chronic hepatic dysfunction or enzymatic deficiency, screening tests can play an important role in the diagnostic work-up.

Key testing

Lysosomal acid lipase deficiency

Late-onset lysosomal acid lipase deficiency (LAL-D) is likely underdiagnosed and frequently identified after liver pathology reveals findings similar to NAFLD or NASH. Early diagnosis of LAL-D is critical to stopping the progression of the disease, as studies have shown that nearly 50% of pediatric and adult LAL-D patients progress to fibrosis, cirrhosis, or liver transplantation within three years of first clinical manifestation.

Key testing


  • Helps establish LAL-D diagnosis.
  • Supports clinical treatment guidelines that recommend LAL-D be ruled out when evaluating children and adults for nonalcoholic fatty liver disease.

Wilson disease

Early diagnosis of Wilson disease allows for treatment and prevention of permanent organ damage. However, diagnosis can be challenging because its signs and symptoms are often hard to distinguish from those of other liver diseases, such as hepatitis. To aid clinicians, our algorithmic approach to testing ensures the right test is performed at the right time.

Key testing


Fill out the form below and one of our specialists will be in touch.