Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 57 | 18 |
|
Lysosomal storage disorder by enzyme study from amniotic fluid and CVS Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 24 | 23 |
|
Cherry red spot and Neuroregression panel Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 7 | 6 |
|
Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 1 | 1 |
|
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 221 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
SLC17A5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
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 | 829 | 848 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
Non-Immune Hydrops Fetalis Panel PreventionGenetics United States | 291 | 148 |
|
Lysosomal Storage Disorders Panel PreventionGenetics United States | 242 | 146 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis 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.