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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
FGFR3 Gene Crouzon syndrome with acanthosis nigricans NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
IRAK4 Gene Invasive pneumococcal disease, recurrent isolated type 1 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
IRAK4 Gene IRAK4 deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
IRAK4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 754 | 562 |
|
Mendelian Susceptibility to Mycobacterial Disease Panel PreventionGenetics, part of Exact Sciences United States | 29 | 17 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
|
Primary Immunodeficiency via the IRAK4 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 385 |
|
Increased risk for infection with Gram-positive bacteria (c.1282G>A SNP on IRAK4 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Primary immunodeficiency due to IRAK4 deficiency (sequence analysis of IRAK4 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency CGC Genetics Unilabs Portugal | 1 | 1 |
|
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil | 1 | 397 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
|
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.