Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PSAP Gene Krabbe disease, atypical NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
PSAP Gene Prosaposin deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
PSAP Gene Gaucher disease, atypical NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 2 | 128 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 199 |
|
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 |
|
PSAP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 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 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 8 | 112 |
|
Lysosomal Storage Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 56 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences 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.