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Results: 1 to 20 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

PRPF31 - NGS including CNV analysis

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

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa 11, 600138, Autosomal dominant; RP11 (Retinitis pigmentosa) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Retinitis pigmentosa 11, 600138, Autosomal dominant; RP11 (Retinitis pigmentosa) (PRPF31 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Invitae Inherited Retinal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa, autosomal recessive and X-linked

Amplexa Genetics Amplexa Genetics A/S
Denmark
265
  • S Mutation scanning of the entire coding region

Retinitis Pigmentosa, autosomal dominant and X-linked

Amplexa Genetics Amplexa Genetics A/S
Denmark
230
  • S Mutation scanning of the entire coding region

MVL Vision Panel

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

Retinitis Pigmentosa Panel

PreventionGenetics, part of Exact Sciences
United States
9182
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Dominant Retinitis Pigmentosa (RP) Panel

PreventionGenetics, part of Exact Sciences
United States
3230
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Recessive Retinitis Pigmentosa (RP) Panel

PreventionGenetics, part of Exact Sciences
United States
6260
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PRPF31 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

PRPF31 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

PRPF31 Comprehensive - Sequence & Deletion/Duplication Analysis

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

PRPF31 Sequence Analysis

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

Retinitis Pigmentosa via the PRPF31 Gene

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

Retinitis pigmentosa

VECMD Retina and Genomics Institute VECMD
Mexico
98
  • L Linkage analysis

Genomic Unity® Retinal Disorders Analysis

Variantyx, Inc.
United States
1394
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • 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.