Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Loeys-Dietz syndrome type 3 (sequence analysis of SMAD3 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Rhabdo/Metabolic Myopathy Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 83 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 216 |
|
NGS Panel for Congenital and Acquired Sideroblastic Anemia BloodGenetics Spain | 18 | 17 |
|
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 Myriad Genetics, Inc. United States | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 107 | 96 |
|
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States | 1 | 335 |
|
Nuclear Mitochondrial Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 221 |
|
Combined mtDNA+Nuclear Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 12 | 221 |
|
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 |
|
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.