Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States | 39 | 40 |
|
PFKM Gene Glycogen storage disease type 7 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 |
|
Red Blood Cell Enzyme Panel, Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States | 19 | 17 |
|
BloodGenetics Spain | 33 | 36 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 107 | 96 |
|
BloodGenetics Spain | 12 | 17 |
|
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States | 1 | 335 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 221 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
PFKM - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Carrier Screening Guidelines-Based Panel Ambry Genetics United States | 199 | 164 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 247 | 262 |
|
Centogene AG - the Rare Disease Company Germany | 325 | 316 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
|
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States | 57 | 28 |
|
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.