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Results: 1 to 20 of 39 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Leber congenital amaurosis type 3

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

Retinitis pigmentosa, juvenile, autosomal 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

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 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

Leber Congential Amaurosis Panel (MitomeNGS)

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

SPATA7 Comprehensive - Sequence & Deletion/Duplication Analysis

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

SPATA7 Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis

SPATA7 Sequence Analysis

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

SPATA7 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Leber Congenital Amaurosis Panel

Blueprint Genetics
Finland
125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Ciliopathies

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
44116
  • 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

Leber Congenital Amaurosis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1617
  • C Sequence analysis of the entire coding region

RETINITIS PIGMENTOSA A.R.

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1541
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes)

CGC Genetics
Portugal
153
  • 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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