Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 2 | 1 |
|
ELANE - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
|
Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States | 92 | 68 |
|
Invitae Neonatal Respiratory Distress Panel Invitae United States | 163 | 111 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 250 | 155 |
|
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 267 | 186 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States | 241 | 157 |
|
Versiti Diagnostic Laboratories Versiti, Inc United States | 2 | 24 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
|
Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States | 37 | 85 |
|
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 |
|
Invitae Hereditary Myelodysplastic Syndrome/Leukemia Panel Invitae United States | 76 | 32 |
|
Invitae Bone Marrow Failure Syndromes Panel Invitae United States | 138 | 85 |
|
Versiti Diagnostic Laboratories Versiti, Inc United States | 2 | 1 |
|
Versiti Diagnostic Laboratories Versiti, Inc United States | 2 | 1 |
|
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.