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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 182 | 117 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 163 | 110 |
|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
MEFV - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
|
Invitae Congenital Diarrhea Panel Invitae United States | 121 | 83 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Familial Mediterranean fever, AD, 134610, Autosomal dominant (Familial Mediterranean fever) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States | 241 | 157 |
|
Invitae United States | 409 | 164 |
|
Invitae Progressive Renal Disease Panel Invitae United States | 310 | 195 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
|
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States | 223 | 154 |
|
Invitae Monogenic Inflammatory Bowel Disease Panel Invitae United States | 108 | 67 |
|
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 |
|
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.