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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 107 | 96 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 202 | 128 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 394 | 319 |
|
Invitae Iron Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 39 | 27 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 249 | 155 |
|
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
|
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 266 | 186 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 20 | 46 |
|
PUS1 - Myopathy- lactic acidosis- and sideroblastic anemia Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, SLC25A38, STEAP3, ALAS2, PUS1, YARS2) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 8 | 8 |
|
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 107 | 83 |
|
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.