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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
EBV/Lymphoproliferation GenePanel Mayo Clinic Laboratories Mayo Clinic United States | 35 | 25 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 34 | 26 |
|
STK4 - 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 |
|
Invitae Hereditary Lymphoma Panel Invitae United States | 85 | 43 |
|
Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States | 92 | 68 |
|
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 |
|
Invitae Bone Marrow Failure Syndromes Panel Invitae United States | 138 | 85 |
|
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
|
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States | 330 | 90 |
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
STK4 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Fulgent Genetics United States | 1 | 1 |
|
Inherited Neutropenia panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 39 | 40 |
|
Fulgent Genetics United States | 5129 | 4672 |
|
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 35 | 41 |
|
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.