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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

Sjogren-Larsson syndrome (sequence analysis of ALDH3A2 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • 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

Invitae Macular Dystrophy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6636
  • D Deletion/duplication analysis

Retinal degeneration, late-onset, autosomal dominant, 605670, Autosomal dominant; LORD (Late-onset retinal degeneration) (C1QTNF5 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

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

C1QTNF5 - Late-Onset Retinal Degeneration (L-ORD)

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Stargardt Disease and Macular Dystrophies

Amplexa Genetics Amplexa Genetics A/S
Denmark
223
  • 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

Stargardt Disease (STGD) and Macular Dystrophies Panel

PreventionGenetics, part of Exact Sciences
United States
3528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

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

Retinitis Pigmentosa Panel 

CGC Genetics Unilabs
Portugal
1203
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis)

CGC Genetics Unilabs
Portugal
1307
  • C Sequence analysis of the entire coding region

Stargardt disease and macular dystrophy (WES based NGS panel of 15 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
115
  • C Sequence analysis of the entire coding region

Retinal degeneration, late-onset, AD (deletion/duplication analysis of C1QTNF5 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Retinal degeneration late-onset, AD (sequence analysis of C1QTNF5 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Arrhythmia Panel

Mendelics
Brazil
1311
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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.