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Results: 1 to 20 of 42 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

Retinitis pigmentosa type 12, autosomal recessive

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

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

Autosomal Recessive Retinitis Pigmentosa Sequencing Panel

PreventionGenetics
United States
6059
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CRB1 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
31
  • C Sequence analysis of the entire coding region

Leber Congential Amaurosis Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
3219
  • C Sequence analysis of the entire coding region

CRB1 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CRB1 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
31
  • D Deletion/duplication analysis

CRB1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CRB1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
31
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

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

Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene

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

Retinitis pigmentosa

VECMD
Mexico
98
  • L Linkage analysis

RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
99
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa Panel

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

Retinitis Pigmentosa, Sequencing CRB1 Gene

Reference Laboratory Genetics
Spain
11
  • 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

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 42

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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