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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
SLC20A2 - 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 | 78 | 76 |
|
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 Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Overgrowth Syndromes Panel Invitae United States | 96 | 53 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States | 247 | 163 |
|
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States | 68 | 70 |
|
Idiopathic Basal Ganglia Calcification Panel PreventionGenetics, part of Exact Sciences United States | 4 | 4 |
|
Genetic Services Laboratory University of Chicago United States | 289 | 481 |
|
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain | 220 | 139 |
|
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain | 247 | 156 |
|
Parkinson's disease panel. NGS panel of 22 genes. Genologica Medica Spain | 45 | 22 |
|
Basal Ganglia Calcification Dystonia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 5 | 63 |
|
Basal ganglia calcification, idiopathic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 5 | 5 |
|
Basal Ganglia Calcification NGS Panel Fulgent Genetics United States | 4 | 2 |
|
Primary Familial Brain Calcification: gene deletion/duplication panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 2 |
|
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.