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Results: 1 to 20 of 53

Tests names and labsConditionsGenes and analytesMethods

BEST1 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
51
  • C Sequence analysis of the entire coding region

PRPH2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

BEST1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PRPH2 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PRPH2 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis

PRPH2 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
51
  • T Targeted variant analysis

Cone-Rod Dystrophy Sequencing Panel

PreventionGenetics
United States
3735
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

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

BEST1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
51
  • T Targeted variant analysis

BEST1 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BEST1 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis

BEST1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 gene

PreventionGenetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

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

FOVEOMACULAR VITELLIFORM DYSTROPHY

Laboratorio de Genetica Clinica SL
Spain
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Macular dystrophy (sequence analysis of PRPH2 gene)

CGC Genetics
Portugal
21
  • C Sequence analysis of the entire coding region

Macular dystrophy (sequence analysis of PRPH2 gene)

CGC Genetics
Portugal
21
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10292
  • C Sequence analysis of the entire coding region

Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes

Reference Laboratory Genetics
Spain
22
  • D Deletion/duplication analysis

Results: 1 to 20 of 53

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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