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Results: 1 to 20 of 56

Tests names and labsConditionsGenes and analytesMethods

Retinitis pigmentosa type 19, autosomal dominant

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

Retinitis pigmentosa type 19, autosomal recessive

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

Cone-rod dystrophy type 3

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection

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 with CNV Detection

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 with CNV Detection

PreventionGenetics
United States
8780
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection

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

ABCA4 mutation analysis

Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
Netherlands
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ABCA4 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
41
  • T Targeted variant analysis

ABCA4 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
41
  • T Targeted variant analysis

ABCA4 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
41
  • C Sequence analysis of the entire coding region

ABCA4 Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
41
  • D Deletion/duplication analysis

ABCA4 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
41
  • D Deletion/duplication analysis

ABCA4 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
41
  • 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

Stargardt disease (STGD), Fundus flavimaculatus (FFM) or Retinal dystrophy, early-onset severe via the ABCA4 gene

PreventionGenetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Stargardt, arRP, Age-Related Macular Degeneration, CORD3 - ABCA4 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
41
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes

Reference Laboratory Genetics
Spain
5757
  • C Sequence analysis of the entire coding region

Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes

Reference Laboratory Genetics
Spain
2627
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 56

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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