U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 20 of 36

Tests names and labsConditionsGenes, analytes, and microbesMethods

ABCA4 - NGS including CNV analysis

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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Macular Dystrophy Panel

Invitae
United States
6636
  • D Deletion/duplication analysis

Fundus flavimaculatus, 248200, Autosomal recessive (Stargardt disease) (MLPA)

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

Retinal dystrophy, early-onset severe, 248200, Autosomal recessive (Stargardt disease) (MLPA)

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

Stargardt disease 1, 248200, Autosomal recessive; STGD1 (Stargardt disease) (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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Flecked Retina Disorder Panel

PreventionGenetics, Part of Exact Sciences
United States
1113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Leber Congenital Amaurosis Panel

PreventionGenetics, Part of Exact Sciences
United States
2728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ABCA4 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ABCA4 Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
41
  • D Deletion/duplication analysis

ABCA4 Deletion/Duplication Analysis

Baylor Genetics
United States
41
  • D Deletion/duplication analysis

ABCA4 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cone-Rod Dystrophy Panel

PreventionGenetics, Part of Exact Sciences
United States
3735
  • 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

Stargardt disease, Fundus Flavimaculatus or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene

PreventionGenetics, Part of Exact Sciences
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ABCA4 MLPA

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

Results: 1 to 20 of 36

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.