U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

BEST1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Macular Dystrophy Panel

Invitae
United States
6636
  • D Deletion/duplication analysis

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Macular dystrophy, vitelliform, 2, 153700, Autosomal dominant; VMD2 (Best vitelliform macular dystrophy) (BEST1 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

Macular dystrophy, vitelliform, 2, 153700, Autosomal dominant; VMD2 (Best vitelliform macular dystrophy) (MLPA)

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

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BEST1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
51
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

BEST1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
51
  • T Targeted variant analysis

BEST1 Sequence Analysis

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

BEST1 Deletion/Duplication Analysis

Baylor Genetics
United States
51
  • D Deletion/duplication analysis

BEST1 Comprehensive - Sequence & Deletion/Duplication Analysis

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

BEST1 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • D Deletion/duplication analysis

Macular dystrophy panel. NGS panel of 26 genes.

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

Rod and cone dystrophy panel. 42-gene NGS panel.

Genologica Medica
Spain
6541
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa panel

Genologica Medica
Spain
164108
  • 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

Vitreoretinopathy panel. 23-gene NGS panel.

Genologica Medica
Spain
6323
  • C Sequence analysis of the entire coding region

BEST1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Results: 1 to 20 of 42

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.