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Results: 1 to 20 of 39 (representing 13 labs)

Tests names and labsConditionsGenes and analytesMethods

Retinitis pigmentosa type 35, autosomal dominant/recessive

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

Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
122107
  • 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

SEMA4A Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

SEMA4A Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

SEMA4A Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SEMA4A Sequence Analysis

Baylor Genetics
United States
11
  • 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 Genetics
United States
845637
  • D Deletion/duplication analysis

Retinitis Pigmentosa 35 (RP35) and Cone-rod dystrophy 10 (CORD10) via the SEMA4A Gene

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

Retinal Dystrophy Panel

Blueprint Genetics
Finland
1181
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa Panel

Blueprint Genetics
Finland
180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cone Rod Dystrophy Panel

Blueprint Genetics
Finland
132
  • D Deletion/duplication analysis
  • 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

RETINITIS PIGMENTOSA A.D

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2727
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes)

CGC Genetics
Portugal
127
  • 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

Results: 1 to 20 of 39

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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