Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
IMPDH1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 498 | 498 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Centogene AG - the Rare Disease Company Germany | 499 | 499 |
|
Leber congenital amaurosis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 32 |
|
Leber congenital amaurosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 32 |
|
Leber congenital amaurosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 32 |
|
Leber congenital amaurosis 11, 613837; LCA11 (Leber congenital amaurosis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Retinitis pigmentosa 10, 180105, Autosomal dominant; RP10 (Retinitis pigmentosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 486 | 293 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Retinitis Pigmentosa, autosomal dominant and X-linked Amplexa Genetics Amplexa Genetics A/S Denmark | 2 | 30 |
|
Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 22 |
|
Molecular Vision Laboratory United States | 342 | 268 |
|
Focused Inherited Retinal Disorders Panel PreventionGenetics, part of Exact Sciences United States | 36 | 31 |
|
Leber congenital amaurosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 32 |
|
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.