Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Focal dermal hypoplasia (deletion/duplication analysis of PORCN gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Neuronal Ceroid-Lipofuscinoses Panel Genetic Services Laboratory University of Chicago United States | 11 | 13 |
|
SNCA Gene PARK1 Parkinson NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
AP4M1 Gene SPG50 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
TPP1 Gene Spinocerebellar ataxia type 7, autosomal recessive NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 199 |
|
Comprehensive Epilepsy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 318 |
|
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 221 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
Centogene AG - the Rare Disease Company Germany | 12 | 36 |
|
Centogene AG - the Rare Disease Company Germany | 1 | 4 |
|
TPP1 - 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 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
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.