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Results: 1 to 20 of 35

Tests names and labsConditionsGenes and analytesMethods

Retinitis pigmentosa type 43, autosomal recessive

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

MVL Vision Panel

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

Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection

PreventionGenetics
United States
3631
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • 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

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

PDE6A mutation analysis

Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
Netherlands
11
  • C Sequence analysis of the entire coding region

PDE6A Sequence Analysis (Prenatal Diagnosis)

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

PDE6A Sequence Analysis

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

PDE6A Comprehensive - Sequence & Deletion/Duplication Analysis

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

PDE6A Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

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

Retinitis Pigmentosa via the PDE6A Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

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

Eye Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
321207
  • D Deletion/duplication analysis

Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes

Reference Laboratory Genetics
Spain
4141
  • C Sequence analysis of the entire coding region

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 PDE6A Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 35

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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