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Results: 1 to 18 of 18 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Cone-rod dystrophy type 7

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

Autosomal Dominant Cone-rod Dystrophy via the RIMS1 Gene

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

Cone-Rod Dystrophy Sequencing Panel

PreventionGenetics
United States
2726
  • 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

Eye diseases comprehensive panel

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

Cone rod dystrophy

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3530
  • C Sequence analysis of the entire coding region

Cone Rod Dystrophy panel

Molecular Vision Laboratory
United States
5133
  • C Sequence analysis of the entire coding region

Cone-rod dystrophy (NGS panel of 36 genes)

CGC Genetics
Portugal
3036
  • C Sequence analysis of the entire coding region

Cone-rod dystrophy 7 (sequence analysis of RIMS1 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

Cone Rod Dystrophies Panel

CeGaT GmbH
Germany
1440
  • C Sequence analysis of the entire coding region

Cone-Rod Dystrophy

Asper Biogene Asper Biogene LLC
Estonia
2730
  • C Sequence analysis of the entire coding region

RIMS1

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • 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

Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
6836
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cone-Rod Dystrophy NGS Panel

Fulgent Genetics
United States
4424
  • 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 18 of 18

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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