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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

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
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) (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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication 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

Congenital Cataracts NGS Panel

Fulgent Genetics
United States
10656
  • D Deletion/duplication analysis
  • 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

Vitreoretinochoroidopathy (BEST1 Single Gene Test)

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

FOVEOMACULAR VITELLIFORM DYSTROPHY

Laboratorio de Genetica Clinica SL
Spain
22
  • D Deletion/duplication analysis
  • 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

BEST1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa NGS Panel

Fulgent Genetics
United States
329124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glaucoma NGS Panel

Fulgent Genetics
United States
6826
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cone-Rod Dystrophy NGS Panel

Fulgent Genetics
United States
5629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.