Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute United States | 3 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 182 | 117 |
|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
NLRP3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 1 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 754 | 562 |
|
Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 525 | 338 |
|
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 361 | 224 |
|
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States | 223 | 154 |
|
Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
|
Invitae Periodic Fever Syndromes Panel Invitae United States | 32 | 18 |
|
Periodic Fever Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 15 | 13 |
|
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene PreventionGenetics, part of Exact Sciences United States | 3 | 1 |
|
Genologica Medica Spain | 44 | 19 |
|
CINCA syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Duzen Laboratories Duzen BBAGUAS Turkey | 3 | 1 |
|
Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany | 1 | 1 |
|
Periodic Fever Syndromes Panel (7 genes) GeneDx United States | 10 | 7 |
|
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.