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Results: 1 to 20 of 77

Tests names and labsConditionsGenes, analytes, and microbesMethods

RBM10 Gene Tarp syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Enhanced S-cone Syndrome

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

MVL Vision Panel

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

Enhanced S-cone syndrome, 268100, Autosomal recessive; ESCS (Goldmann-Favre syndrome) (NR2E3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa 37, 611131, Autosomal recessive, Autosomal dominant; RP37 (Retinitis pigmentosa) (NR2E3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Invitae Inherited Retinal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa, autosomal recessive and X-linked

Amplexa Genetics Amplexa Genetics A/S
Denmark
265
  • S Mutation scanning of the entire coding region

Retinitis Pigmentosa, autosomal dominant and X-linked

Amplexa Genetics Amplexa Genetics A/S
Denmark
230
  • S Mutation scanning of the entire coding region

MVL Vision Panel

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

Focused Inherited Retinal Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
3631
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vitreoretinopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2319
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vitreoretinopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vitreoretinopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
327300
  • C Sequence analysis of the entire coding region

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

Autosomal Recessive Retinitis Pigmentosa (RP) Panel

PreventionGenetics, part of Exact Sciences
United States
6260
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NR2E3 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
21
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 77

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.