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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 72 | 133 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
TSEN34 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 777 | 770 |
|
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 |
|
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 247 | 161 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
PreventionGenetics, part of Exact Sciences United States | 79 | 52 |
|
Pontocerebellar Hypoplasia Panel PreventionGenetics, part of Exact Sciences United States | 14 | 12 |
|
Genetic Services Laboratory University of Chicago United States | 289 | 481 |
|
Pontocerebellar Hypoplasia via the TSEN34 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
|
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States | 37 | 131 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Hereditary ataxias panel_v.2.0 CGC Genetics Unilabs Portugal | 1 | 427 |
|
Microcephaly and pontocerebellar hypoplasia (WES based panel of 53 genes, incluiding CNV analysis) CGC Genetics Unilabs Portugal | 1 | 53 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
CGC Genetics Unilabs Portugal | 1 | 759 |
|
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.