Alpha-1-antitrypsin deficiency

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

Key testing

• A1ALC | Alpha-1-Antitrypsin Proteotype S/Z by LC-MS/MS, Serum
  • Testing enables definitive results 97% of the time.
  • In the 3% of cases with conflicting mass spectrometry proteotype and quantitative serum levels, phenotyping is automatically ordered and performed.
• SERPZ | SERPINA1 Gene, Full Gene Analysis, Varies
  • Helpful for patients suspected of alpha-1-antitrypsin (A1A) deficiency evidenced through clinical and serum A1A levels but lacking SZ of ZZ genotype by routine methods.
  • Performs full sequencing of the SERPINA1 coding region for the detection of rare null and non-S or non-Z disease-associated mutations.

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Cholestasis

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

Key testing

• CHLGP | Cholestasis Gene Panel, Varies
  • Identifies variants with genes known to be associated with primary, monogenic cholestasis. 
  • Results can enable predictive testing of at-risk family members.

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Hemochromatosis

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

• HFET | Hereditary Hemochromatosis, HFE Variant Analysis, Varies
  • Detects the two common disease-causing mutations C282Y and H63D.
  • The S65C mutation is reported only when it is observed as part of the C282Y/S65C genotype.

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Hepatosplenomegaly

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

• HSMWB | Hepatosplenomegaly Panel, Blood
• HSMP | Hepatosplenomegaly Panel, Plasma

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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

• LALB | Lysosomal Acid Lipase, Blood

Advantages

• 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.

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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

• CERS | Ceruloplasmin, Serum
  • First-tier screening to identify deficiencies is ceruloplasmin, which is below normal in approximately 95% of Wilson disease cases.
• CUS1 | Copper, Serum
  • First-tier testing to diagnose Wilson disease, primary biliary, cholangitis, and primary sclerosing cholangitis.
• CUT | Copper, Liver Tissue
  • Liver biopsy can be useful to help interpret discrepant biochemical or molecular results.
• WNDZ | Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
  • Analyzes the ATP7B gene to confirm diagnosis of Wilson disease.
  • Enables the screening of siblings who may be able to start treatment before symptoms arise.