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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

RP1L1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Macular Dystrophy Panel

Invitae
United States
6636
  • D Deletion/duplication analysis

Occult macular dystrophy, 613587, Autosomal dominant; OCMD (Occult macular dystrophy) (RP1L1 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

Invitae
United States
486293
  • 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

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Macular dystrophy panel. NGS panel of 26 genes.

Genologica Medica
Spain
5026
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

RP1L1

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes

Reference Laboratory Genetics
Spain
1212
  • C Sequence analysis of the entire coding region

Macular Degeneration NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2624
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10392
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
367291
  • C Sequence analysis of the entire coding region

Single gene testing RP1L1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Stargardt Disease and Macular Dystrophies Panel

CeGaT GmbH
Germany
1222
  • C Sequence analysis of the entire coding region

Stargardt Panel

Molecular Vision Laboratory
United States
2813
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.