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Results: 1 to 20 of 68 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

Leber congenital amaurosis type 7

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

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

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

Leber Congenital Amaurosis Sequencing Panel

PreventionGenetics
United States
2728
  • 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 Miraca Genetics Laboratories
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 Miraca Genetics Laboratories
United States
21
  • T Targeted variant analysis

CRX Sequence Analysis

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

CRX Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis

CRX Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
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

Cone-Rod Dystrophy Type 2 , Sequencing CRX Gene

Reference Laboratory Genetics
Spain
11
  • 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

Invitae Leber Congenital Amaurosis Panel

Invitae
United States
3719
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathy Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
219152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 68

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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