Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Hydrops fetalis panel for lysosomal disorders Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 23 | 7 |
|
Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 58 | 18 |
|
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
GBA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 7 | 1 |
|
Carrier Screening Guidelines-Based Panel Ambry Genetics United States | 199 | 164 |
|
Carrier Screening Ashkenazi Jewish Panel Ambry Genetics United States | 51 | 47 |
|
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 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Centogene AG - the Rare Disease Company Germany | 325 | 316 |
|
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 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Gaucher Common Variants Test Invitae United States | 7 | 1 |
|
Invitae Hereditary Parkinson Disease and Parkinsonism Panel Invitae United States | 44 | 26 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
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.