U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

HEXA mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tay-Sachs disease (HEXA gene)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
31
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish Diseases

Asper Biogene Asper Biogene LLC
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Amyotrophic Lateral Sclerosis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2921
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia All Panel

CeGaT GmbH
Germany
4954
  • C Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel

CeGaT GmbH
Germany
69175
  • 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

Hereditary Degenerative Syndromes Panel

CeGaT GmbH
Germany
2849
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • C Sequence analysis of the entire coding region

Results: 1 to 9 of 9

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.