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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Tempus Labs, Inc. United States | 2 | 647 |
|
TAP2 - 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 | 755 | 562 |
|
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 United States | 177 | 130 |
|
Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
|
CGC Genetics Unilabs Portugal | 1 | 385 |
|
HLA class 1 expression deficit (deletions/duplications in TAP2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Neonatal Baby Cheek Screening Test Mendelics Brazil | 1 | 342 |
|
Primary Immunodeficiencies Panel Mendelics Brazil | 1 | 59 |
|
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil | 1 | 397 |
|
Mendelics Brazil | 1 | 369 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Bare lymphocyte syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 5 | 6 |
|
TAP2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
GeneDx United States | 1 | 1818 |
|
Very Early Onset Inflammatory Bowel Disease (VEO-IBD) Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 1 | 97 |
|
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.