Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
SUCLA2 Gene Mitochondrial DNA depletion syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 182 | 117 |
|
LPIN2 Gene Majeed syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
NGS Panel for Congenital Dyserythropoietic Anemia BloodGenetics Spain | 9 | 12 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 107 | 96 |
|
LPIN2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Invitae Hereditary Hemolytic Anemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 74 | 39 |
|
Invitae Phagocytic Disorders Including Neutropenia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 92 | 68 |
|
Invitae Congenital Dyserythropoietic Anemia (CDA) Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 12 | 7 |
|
GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA) Genomic Testing Cooperative, LCA United States | 1 | 434 |
|
Genomic Testing Cooperative, LCA United States | 1 | 434 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 223 | 154 |
|
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 552 | 424 |
|
Invitae Periodic Fever Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 32 | 18 |
|
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.