Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL11 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.: GTR000558370.5
Last updated: 2023-06-19
Test version history
- 558370.5, last updated: 2023-06-19
- 558370.4, last updated: 2020-09-09
- 558370.3, last updated: 2018-06-08
- 558370.2, last updated: 2018-03-16
- 558370.1, last updated: 2017-12-04

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 7
Offered by PreventionGenetics

Indication

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

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
Choanal atresia
Patent ductus arteriosus
Esophagitis
Fetal distress
Fetal growth restriction
Ventricular septal defect
Polyhydramnios
Osteopenia
Osteoporosis
Scoliosis
Tetralogy of Fallot
Vesicoureteral reflux
Low levels of vitamin D
Congenital elevation of scapula
Horseshoe kidney
Recurrent infections
Triphalangeal thumb
Atresia of the external auditory canal
Increased mean corpuscular volume
Secundum atrial septal defect
Short thumb
Growth delay
Recurrent otitis media
Neutropenia
Hearing impairment
Small hypothenar eminence
Cleft palate

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Autosomal dominant inheritance

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

Practice guidelines

EuroGenetest, 2011
Clinical utility gene card for: Diamond Blackfan anemia

Molecular resources

Consumer resources

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Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL11 Gene

Indication

Clinical summary

Imported from GeneReviews

Clinical features

Imported from Human Phenotype Ontology (HPO)

Inheritance pattern