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Results: 1 to 20 of 46 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

Cone-rod dystrophy type 2

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

Cone-rod 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
299280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
8780
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Dominant Retinitis Pigmentosa Sequencing Panel

PreventionGenetics
United States
3029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CRX. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

ABCA4, CRX, GUCY2D. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
53
  • C Sequence analysis of the entire coding region

Leber Congential Amaurosis Panel (MitomeNGS)

Baylor Genetics
United States
3219
  • C Sequence analysis of the entire coding region

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

CRX Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

CRX Sequence Analysis

Baylor Genetics
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CRX Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis

CRX Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Leber Congenital Amaurosis via the CRX Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
218152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AIPL1 single-gene sequencing 

Molecular Vision Laboratory
United States
41
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CRX

Institute for Human Genetics University Clinic Freiburg
Germany
21
  • 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

RETINITIS PIGMENTOSA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
5657
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 46

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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