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Results: 1 to 20 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

Macular dystrophy, vitelliform, 3, 608161, Autosomal dominant; VMD3 (Adult-onset foveomacular vitelliform dystrophy) (PRPH2 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

Macular dystrophy, vitelliform, 3, 608161, Autosomal dominant; VMD3 (Adult-onset foveomacular vitelliform dystrophy) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Deafness, autosomal recessive 6 (sequence analysis of TMIE gene)

CGC Genetics Unilabs
Portugal
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

PRPH2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Macular Dystrophy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6636
  • D Deletion/duplication analysis

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

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

MVL Vision Panel

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

BEST1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
51
  • C Sequence analysis of the entire coding region

PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PRPH2 Sequence Analysis

Baylor Genetics
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PRPH2 Deletion/Duplication Analysis

Baylor Genetics
United States
51
  • D Deletion/duplication analysis

PRPH2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
51
  • T Targeted variant analysis

Cone-Rod Dystrophy Panel

PreventionGenetics, part of Exact Sciences
United States
3735
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BEST1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
51
  • T Targeted variant analysis

BEST1 Sequence Analysis

Baylor Genetics
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BEST1 Deletion/Duplication Analysis

Baylor Genetics
United States
51
  • D Deletion/duplication analysis

BEST1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 Gene

PreventionGenetics, part of Exact Sciences
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 56

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.