Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 30 | 18 |
|
PARN - 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 Telomere Biology Disorders Panel Invitae United States | 22 | 13 |
|
Invitae Surfactant Metabolism Panel Invitae United States | 40 | 19 |
|
Invitae Hypopigmentation Panel Invitae United States | 83 | 46 |
|
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 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 163 | 128 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 24 | 15 |
|
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 125 | 69 |
|
Dyskeratosis Congenita (DC) via the PARN Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
|
Interstitial Lung Disease Panel PreventionGenetics, part of Exact Sciences United States | 26 | 24 |
|
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 |
|
Telomere Biology Disorder/Dyskeratosis Congenita Panel Genetic Services Laboratory University of Chicago United States | 6 | 16 |
|
Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States | 30 | 59 |
|
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.