U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

GUCA1B - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Macular Dystrophy Panel

Invitae
United States
6636
  • D Deletion/duplication analysis

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Stargardt Disease (STGD) and Macular Dystrophies Panel

PreventionGenetics, Part of Exact Sciences
United States
3528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Retinitis Pigmentosa Panel

PreventionGenetics, Part of Exact Sciences
United States
9182
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Dominant Retinitis Pigmentosa (RP) Panel

PreventionGenetics, Part of Exact Sciences
United States
3230
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GUCA1B Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

GUCA1B Comprehensive - Sequence & Deletion/Duplication Analysis

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

Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via the GUCA1B Gene

PreventionGenetics, Part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Retinopathy and Optic Atrophy NGS Panel

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

GUCA1B Single Gene

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

Autosomal Dominant Retinitis Pigmentosa

Asper Biogene Asper Biogene LLC
Estonia
2526
  • 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

Retinitis Pigmentosa NGS Panel

Fulgent Genetics
United States
329124
  • D Deletion/duplication analysis
  • 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

Results: 1 to 17 of 17

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.