Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL15 Gene

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000560063.4
Last updated: 2020-09-12
Test version history
- 560063.4, last updated: 2020-09-12
- 560063.3, last updated: 2020-09-09
- 560063.2, last updated: 2018-07-03
- 560063.1, last updated: 2018-03-09

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Diamond-Blackfan anemia 12
Offered by PreventionGenetics, part of Exact Sciences

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Imported from GeneReviews

Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.

Imported from Human Phenotype Ontology (HPO)

Macrocytic anemia
Ventricular septal defect
Normochromic anemia
Triphalangeal thumb
Reticulocytopenia
Elevated red cell adenosine deaminase activity

Show all

Conditions tested

Patients with symptoms of Diamond-Blackfan anemia or indication of bone marrow failure or MDS/AML are candidates for this test. Other candidates for this test include potential donors and patients with an indication of bone marrow failure and who have tested negative for other bone marrow failure disorders such as Fanconi anemia, Shwachman-Diamond syndrome, dyskeratoris congenita, and severe congenital neutropenia.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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.

Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL15 Gene

Indication

Clinical summary

Imported from GeneReviews

Clinical features