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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hypertriglyceridemia Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1612
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholesteryl ester storage disease: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Wolman LIPA gene sequencing

Duzen Laboratories Duzen BBAGUAS
Turkey
21
  • C Sequence analysis of the entire coding region

Lysosomal Acid Lipase Activity, Blood

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
31
  • E Enzyme assay

Lysosomal Acid Lipase deficiency

Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
21
  • C Sequence analysis of the entire coding region

Hereditary hepatic diseases (55 genes)

Center for Human Genetics Cliniques Universitaires Saint Luc
Belgium
3655
  • C Sequence analysis of the entire coding region

Metabolic Liver Failure Panel

Blueprint Genetics
Finland
1416
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Liver Diseases Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
7172
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 8 of 8

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.