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Results: 81 to 95 of 95

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cholestasis NGS Panel

Fulgent Genetics
United States
12166
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa NGS Panel

Fulgent Genetics
United States
329124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peroxisomal NGS Panel

Fulgent Genetics
United States
7621
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Refsum disease

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Very Long Chain Fatty Acids

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
49
  • A Analyte

Refsum disease

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

PHYH-Related Refsum Disease

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
12
  • A Analyte
  • E Enzyme assay
  • C Sequence analysis of the entire coding region

PEX7-Related Refsum Disease

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
12
  • A Analyte
  • E Enzyme assay
  • C Sequence analysis of the entire coding region

Refsum Disease

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
12
  • A Analyte
  • E Enzyme assay
  • C Sequence analysis of the entire coding region

Results: 81 to 95 of 95

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.