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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
CNGA3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
|
Invitae United States | 7 | 8 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
|
Molecular Vision Laboratory United States | 342 | 268 |
|
Leber Congenital Amaurosis Panel PreventionGenetics, part of Exact Sciences United States | 27 | 28 |
|
Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 1 | 1 |
|
Baylor Genetics United States | 842 | 637 |
|
Achromatopsia (ACHM) via the CNGA3 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
PreventionGenetics, part of Exact Sciences United States | 7 | 6 |
|
Leber's congenital amaurosis panel. NGS panel of 26 genes. Genologica Medica Spain | 40 | 26 |
|
Rod and cone dystrophy panel. 42-gene NGS panel. Genologica Medica Spain | 65 | 41 |
|
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
|
Achromatopsia panel. 8-gene NGS panel. Genologica Medica Spain | 8 | 8 |
|
Achromatopsia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 5 | 5 |
|
Bioarray Spain | 1 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 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.