Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CSTB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
CSTB - Repeat expansion 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 | 734 | 744 |
|
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 |
|
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 |
|
Epilepsy: Unverricht-Lundborg Disease via the CSTB Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Invitae United States | 466 | 297 |
|
Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 1 |
|
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 234 | 240 |
|
Unverricht-Lundborg disease (detection of expansion on CSTB gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain | 220 | 139 |
|
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain | 247 | 156 |
|
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain | 409 | 283 |
|
Neuronal ceroid lipofuscinosis and progressive myoclonic epilepsy panel. 31-gene NGS panel. Genologica Medica Spain | 46 | 31 |
|
Progressive Myoclinical Epilepsy Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey | 1 | 1 |
|
Progressive Myoclinical Epilepsy Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey | 1 | 1 |
|
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.