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Results: 1 to 20 of 34 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

Leber congenital amaurosis type 5

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

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

LCA5 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

LCA5 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LCA5 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

LCA5 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • 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

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Ashkenazi Jewish Panel

Molecular Vision Laboratory
United States
128
  • C Sequence analysis of the entire coding region

LCA5

Institute for Human Genetics University Clinic Freiburg
Germany
11
  • 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

CarrierMap

Recombine
United States
300298
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 34

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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