Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Ethylmalonic encephalopathy (sequence analysis of ETHE1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 182 | 117 |
|
NLRP12 Gene Cold autoinflammatory syndrome type 2 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
NLRP12 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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 |
|
Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Periodic Fever Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 15 | 13 |
|
Periodic Fever Syndrome (WES based NGS panel of 10 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 10 |
|
CGC Genetics Unilabs Portugal | 1 | 385 |
|
Familial cold autoinflammatory syndrome 2 (sequence analysis of NLRP12 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Autoinflammatory Diseases Panel Mendelics Brazil | 1 | 22 |
|
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil | 1 | 397 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 17 |
|
AUTOINFLAMMATORY SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 108 |
|
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.