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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
ALDH18A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Invitae Connective Tissue Disorders Panel Invitae United States | 195 | 92 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States | 253 | 189 |
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Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
PreventionGenetics, part of Exact Sciences United States | 66 | 63 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae United States | 75 | 72 |
|
Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
|
Invitae Hereditary Spastic Paraplegia Comprehensive Panel Invitae United States | 98 | 62 |
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Baylor Genetics United States | 842 | 637 |
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Cataract panel. NGS panel of 69 genes. Genologica Medica Spain | 146 | 69 |
|
Genologica Medica Spain | 123 | 68 |
|
Progeria panel. 17-gene NGS panel. Genologica Medica Spain | 48 | 17 |
|
Ehlers-Danlos syndrome panel. 32-gene NGS panel. Genologica Medica Spain | 85 | 32 |
|
Aortic disease panel. 41-gene NGS panel. Genologica Medica Spain | 94 | 41 |
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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.