Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Hereditary nonpolyposis colorectal cancer, type 6 (HNPCC6, sequence analysis of TGFBR2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States | 39 | 40 |
|
PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Bone marrow failure Anemia panel NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Red Blood Cell Enzyme Panel, Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States | 19 | 17 |
|
BloodGenetics Spain | 33 | 36 |
|
Pyruvate Kinase Liver and Red Blood Cell (PKLR) Full Gene Sequencing and Large Deletion Detection Mayo Clinic Laboratories Mayo Clinic United States | 2 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine 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 | 205 |
|
PKLR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
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 | 406 | 414 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 57 | 28 |
|
Invitae Hereditary Hemolytic Anemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 74 | 39 |
|
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.