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Results: 1 to 20 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

Leber Congenital Amaurosis

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
114
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

MVL Vision Panel

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

Retinal Dystrophy Panel 

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

Horizon 274 Male

Natera, Inc.
United States
244254
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Horizon 274 Plus TSE

Natera, Inc.
United States
265275
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274

Natera, Inc.
United States
265274
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274

Natera, Inc.
United States
265274
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Retinal Dystrophy Xpanded Panel

GeneDx
United States
20856
  • C Sequence analysis of the entire coding region

Congenital Cataracts NGS Panel

Fulgent Genetics
United States
10656
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset Ataxia NGS Panel

Fulgent Genetics
United States
505132
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia NGS Panel

Fulgent Genetics
United States
533149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Blueprint Genetics
Finland
1260
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RDH11 Single Gene

Fulgent Genetics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TUB Single Gene

Fulgent Genetics
United States
191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

INPP5E Single Gene

Fulgent Genetics
United States
721
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LAMA1 Single Gene

Fulgent Genetics
United States
181
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DRAM2 Single Gene

Fulgent Genetics
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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.