U.S. flag

An official website of the United States government

Filters

Test type

Test purpose

Test method

Test service

Laboratory certification

Specimen type

See more specimen types...

Laboratory location

Other countries

See more countries

Results: 1 to 20 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

EFEMP1 Gene Doyne honeycob retinal dystrophy NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MVL Vision Panel

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

EFEMP1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

Labcorp Genetics (formerly Invitae) LabCorp
United States
6636
  • D Deletion/duplication analysis

Doyne honeycomb degeneration of retina, 126600, Autosomal dominant; DHRD (Familial drusen) (EFEMP1 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

Invitae Inherited Retinal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Flecked Retina Disorders

Amplexa Genetics Amplexa Genetics A/S
Denmark
17
  • S Mutation scanning of the entire coding region

Flecked retina panel

Amplexa Genetics Amplexa Genetics A/S
Denmark
17
  • S Mutation scanning of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • 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

Glaucoma Panel

PreventionGenetics, part of Exact Sciences
United States
3824
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via the EFEMP1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Genomic Unity® Retinal Disorders Analysis

Variantyx, Inc.
United States
1394
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa Panel 

CGC Genetics Unilabs
Portugal
1203
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis)

CGC Genetics Unilabs
Portugal
1307
  • C Sequence analysis of the entire coding region

Ehlers-Danlos, Marfan and differential diagnosis panel_v.2.0

CGC Genetics Unilabs
Portugal
158
  • C Sequence analysis of the entire coding region

Doyne honeycomb retinal dystrophy (R345W mutation on EFEMP1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 45

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.