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Results: 1 to 15 of 15 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Occult macular dystrophy

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

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
300280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
2722
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
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 Biotech Asper Biotech Ltd.
Estonia
351275
  • C Sequence analysis of the entire coding region

STARGARDT SYNDROME

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1213
  • 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

Single gene testing RP1L1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Occult macular dystrophy (sequence analysis of RP1L1 gene)

CGC Genetics
Portugal
11
  • 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

Stargardt Disease and Macular Dystrophies Panel

CeGaT GmbH
Germany
1222
  • C Sequence analysis of the entire coding region

Stargardt Panel

Molecular Vision Laboratory
United States
2813
  • C Sequence analysis of the entire coding region

RP1L1

Fulgent Genetics
United States
11
  • 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 15 of 15

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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