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Results: 1 to 20 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

ZNF408 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Exudative vitreoretinopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
67
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Exudative vitreoretinopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
67
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Exudative vitreoretinopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
67
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Exudative vitreoretinopathy 6, 616468, Autosomal dominant; EVR6 (Familial exudative vitreoretinopathy) (ZNF408 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 72, 616469, Autosomal recessive; RP72 (Retinitis pigmentosa) (ZNF408 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

Retinitis Pigmentosa, autosomal recessive and X-linked

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

Familial Exudative Vitreoretinopathy and Wagner Syndrome

Amplexa Genetics Amplexa Genetics A/S
Denmark
28
  • S Mutation scanning of the entire coding region

Familial Exudative Vitreoretinopathy and Retinitis Pigmentosa via the ZNF408 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

MVL Vision Panel

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

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

Exudative vitreoretinopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
67
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Exudative vitreoretinopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
67
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 51

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.