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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 30 | 18 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 23 | 15 |
|
NGS Panel for Dyskeratosis congenita BloodGenetics Spain | 11 | 16 |
|
NGS Panel for Diamond-Blackfan Anemia BloodGenetics Spain | 23 | 32 |
|
NGS Panel for Bone Marrow failure BloodGenetics Spain | 56 | 69 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 249 | 155 |
|
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 266 | 186 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 171 | 137 |
|
Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States | 37 | 85 |
|
Telomere Biology Disorder/Dyskeratosis Congenita Panel Genetic Services Laboratory University of Chicago United States | 5 | 16 |
|
Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States | 29 | 59 |
|
Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders Panel PreventionGenetics, part of Exact Sciences United States | 15 | 17 |
|
Oncological diseases panel _v.2.0 CGC Genetics Unilabs Portugal | 1 | 205 |
|
Bone Marrow Failure Syndrome Panel CGC Genetics Unilabs Portugal | 1 | 175 |
|
NAF1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 36 | 40 |
|
Comprehensive Pulmonary NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 123 | 124 |
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Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition Panel Genetic Services Laboratory University of Chicago United States | 7 | 135 |
|
Comprehensive Hereditary Cancer Panel Genetic Services Laboratory University of Chicago United States | 25 | 139 |
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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.