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Results: 1 to 20 of 55

Tests names and labsConditionsGenes and analytesMethods

Retinitis pigmentosa type 3 X-linked

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

Specialized Testing of the Mutational Hotspot RPGR (isoform C) ORF15 Region

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

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

RPGR mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
11
  • C Sequence analysis of the entire coding region

RP2. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

RPGR. Sequencing of the exons 1-15

Instituto de Medicina Genomica
Spain
21
  • E Sequence analysis of select exons

RPGR. Sequencing of the exon ORF15

Instituto de Medicina Genomica
Spain
21
  • E Sequence analysis of select exons

X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel

PreventionGenetics
United States
74
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RPGR Deletion/Duplication Analysis

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

RPGR Sequence Analysis (Prenatal Diagnosis)

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

RPGR Sequence Analysis

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

RPGR 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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

X-linked Retinitis Pigmentosa (XLRP) via the RPGR Gene

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

Cone-Rod Dystrophy Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4537
  • C Sequence analysis of the entire coding region

Ciliopathies: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
14196
  • D Deletion/duplication analysis

Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
6836
  • D Deletion/duplication analysis

RETINITIS PIGMENTOSA (X-LINKED)

Laboratorio de Genetica Clinica SL
Spain
32
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 55

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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