U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 21 to 40 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lysosomal Storage Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholesteryl ester storage disease, 278000, Autosomal recessive (Lysosomal acid lipase deficiency) (LIPA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Cholesteryl ester storage disease, 278000, Autosomal recessive (Lysosomal acid lipase deficiency) (LIPA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Wolman disease, 278000, Autosomal recessive (Lysosomal acid lipase deficiency) (LIPA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Wolman disease, 278000, Autosomal recessive (Lysosomal acid lipase deficiency) (LIPA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, Part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Non-Immune Fetal Hydrops Panel

Invitae
United States
5051
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Acid Lipase Deficiency

Myriad Genetics, Inc.
United States
21
  • C Sequence analysis of the entire coding region

Lysosomal acid lipase deficiency Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal acid lipase deficiency Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal acid lipase deficiency Sequencing test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8757
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

LIPA Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

LIPA Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

LIPA Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

Wolman Disease and Cholesteryl Ester Storage Disease via the LIPA Gene

PreventionGenetics, Part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Acid Lipase Analysis

Baylor Genetics
United States
11
  • A Analyte

Results: 21 to 40 of 80

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.