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Results: 1 to 14 of 14 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Bietti crystalline corneoretinal dystrophy

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

Bietti Crystalline Corneoretinal Dystrophy via the CYP4V2 Gene

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

Retinitis Pigmentosa Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10292
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

CYP4V2 single gene sequencing

Molecular Vision Laboratory
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Flecked Retina Disorders Panel

Blueprint Genetics
Finland
411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa (NGS panel for 72 genes)

CGC Genetics
Portugal
6772
  • C Sequence analysis of the entire coding region

Retina/Photoreceptor Dystrophy: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
36120
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372287
  • C Sequence analysis of the entire coding region

CYP4V2

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

Corneal Dystrophy

Asper Biogene Asper Biogene LLC
Estonia
2520
  • C Sequence analysis of the entire coding region

Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
321207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Eye Disorders NGS Panel

Fulgent Genetics
United States
252138
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.

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