Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
EFEMP1 Gene Doyne honeycob retinal dystrophy NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
EFEMP1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Invitae Macular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 66 | 36 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 486 | 293 |
|
Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 7 |
|
Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 7 |
|
Molecular Vision Laboratory United States | 342 | 268 |
|
PreventionGenetics, part of Exact Sciences United States | 11 | 13 |
|
Stargardt Disease (STGD) and Macular Dystrophies Panel PreventionGenetics, part of Exact Sciences United States | 35 | 28 |
|
PreventionGenetics, part of Exact Sciences United States | 38 | 24 |
|
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via the EFEMP1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States | 1 | 394 |
|
CGC Genetics Unilabs Portugal | 1 | 203 |
|
CGC Genetics Unilabs Portugal | 1 | 306 |
|
Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 307 |
|
Ehlers-Danlos, Marfan and differential diagnosis panel_v.2.0 CGC Genetics Unilabs Portugal | 1 | 58 |
|
Doyne honeycomb retinal dystrophy (R345W mutation on EFEMP1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
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.