Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Dysregulation/Autoimmune Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 39 | 30 |
|
PEPD Gene Prolidase deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
PEPD - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 8 | 112 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States | 223 | 154 |
|
Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
CGC Genetics Unilabs Portugal | 1 | 1293 |
|
CGC Genetics Unilabs Portugal | 1 | 385 |
|
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.