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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
GNAT2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 417 | 413 |
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Invitae United States | 7 | 8 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
|
Molecular Vision Laboratory United States | 342 | 268 |
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Leber Congenital Amaurosis Panel PreventionGenetics United States | 27 | 28 |
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Baylor Genetics United States | 842 | 637 |
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Achromatopsia (ACHM) via the GNAT2 Gene PreventionGenetics United States | 1 | 1 |
|
PreventionGenetics United States | 7 | 6 |
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Achromatopsia - GNAT2 Sequencing Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado United States | 1 | 1 |
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Achromatopsia 4 (sequence analysis of GNAT2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Rod and cone dystrophy panel. 42-gene NGS panel. Genologica Medica Spain | 65 | 41 |
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Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
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Achromatopsia panel. 8-gene NGS panel. Genologica Medica Spain | 8 | 8 |
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Achromatopsia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 5 | 5 |
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Bioarray Spain | 1 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
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Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States | 563 | 241 |
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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.