U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 41 to 60 of 154

Tests names and labsConditionsGenes, analytes, and microbesMethods

Refsum Disease

Amplexa Genetics Amplexa Genetics A/S
Denmark
17
  • S Mutation scanning of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Chondrodysplasia punctata and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Chondrodysplasia punctata and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Chondrodysplasia punctata and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Zellweger Spectrum Disorder Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3618
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Metabolic Newborn Screening Confirmation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peroxisomal Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
3627
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cerebral Palsy Spectrum Disorders Panel

Baylor Genetics
United States
1419
  • C Sequence analysis of the entire coding region

Skeletal Disorders Panel

Baylor Genetics
United States
1354
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Genomic Unity® Retinal Disorders Analysis

Variantyx, Inc.
United States
1394
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Neuro-Ophthalmology Panel 

CGC Genetics Unilabs
Portugal
1223
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Malformations of cortical development panel

CGC Genetics Unilabs
Portugal
5111
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 154

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.