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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States | 41 | 40 |
|
HBD Gene Thalassemia, delta 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 |
|
Congenital Dyserythropoietic Anemia Panel, Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States | 6 | 10 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 107 | 96 |
|
HBD - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Multiplex Gap PCR for HPFH and Hb Lepore (Hollandia, Washington- Boston, Baltimore) Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States | 5 | 4 |
|
MLPA (Multiplex Ligation-Dependent Probe Amplification) for β-globin gene cluster Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States | 2 | 4 |
|
Multiplex Gap-PCR for beta thalassemia deletions Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States | 5 | 2 |
|
Capillary Zone Electrophoresis (Sebia) Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States | 10 | 4 |
|
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal | 1 | 344 |
|
HEREDITARY ANEMIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 144 |
|
Fulgent Genetics United States | 5 | 1 |
|
CeGaT GmbH Germany | 14 | 33 |
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Fulgent Genetics United States | 5128 | 4672 |
|
B4GALNT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
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.