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Results: 81 to 95 of 95

Tests names and labsConditionsGenes, analytes, and microbesMethods

GeneAware Complete Panel Version 2 (Female)

Baylor Genetics
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae GM2 Gangliosidosis Panel

Invitae
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Sandhoff Disease Test

Invitae
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sandhoff disease, infantile, juvenile, and adult forms

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
7475
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

HEXB Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • 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

Sandhoff disease

Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
11
  • E Enzyme assay
  • C Sequence analysis of the entire coding region

Sandhoff disease

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

Sandhoff disease

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

Hexosaminidase B deficiency

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
11
  • E Enzyme assay

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.