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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
ELOVL4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany | 451 | 452 |
|
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany | 442 | 443 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
Invitae Congenital Ichthyosis Panel Invitae United States | 77 | 45 |
|
Invitae Macular Dystrophy Panel Invitae United States | 66 | 36 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
PreventionGenetics United States | 285 | 137 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Genomic UnityⓇ Comprehensive Ataxia Analysis (includes STR analysis of 13 loci) Variantyx, Inc. United States | 52 | 53 |
|
Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
|
Molecular Vision Laboratory United States | 342 | 268 |
|
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain | 220 | 139 |
|
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain | 247 | 156 |
|
Macular dystrophy panel. NGS panel of 26 genes. Genologica Medica Spain | 50 | 26 |
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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.