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Results: 1 to 20 of 25

Tests names and labsConditionsGenes and analytesMethods

Vitreoretinopathy NGS panel

Connective Tissue Gene Tests
United States
2319
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vitreoretinopathy Deletion / Duplication panel

Connective Tissue Gene Tests
United States
2319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vitreoretinopathy Comprehensive panel

Connective Tissue Gene Tests
United States
2319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leber Congential Amaurosis Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories
United States
3219
  • C Sequence analysis of the entire coding region

KCNJ13 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • C Sequence analysis of the entire coding region

KCNJ13 Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KCNJ13 Prenatal Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • E Sequence analysis of select exons

KCNJ13 Familial Mutation/Variant Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • E Sequence analysis of select exons

KCNJ13 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

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

Ciliopathies: Deletion/Duplication Panel

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

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

Invitae Leber Congenital Amaurosis Panel

Invitae
United States
3719
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathy Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
219152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vitreoretinopathy panel

Molecular Vision Laboratory
United States
3719
  • C Sequence analysis of the entire coding region

Leber congenital amaurosis panel

Molecular Vision Laboratory
United States
4323
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome panel

Molecular Vision Laboratory
United States
3823
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372287
  • C Sequence analysis of the entire coding region

KCNJ13

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathies: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
165112
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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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