Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
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.
- Coarctation of aorta
- Colon cancer
- Cleft upper lip
- Fetal growth restriction
- Congestive heart failure
- Atrial septal defect
- Ventricular septal defect
- Hypertelorism
- Micrognathia
- Myelodysplasia
- Osteosarcoma
- Pallor
- Retrognathia
- Strabismus
- Thrombocytopenia
- Tricuspid stenosis
- Premature birth
- Webbed neck
- Parietal foramina
- High palate
- Triphalangeal thumb
- Renal hypoplasia
- Delayed cranial suture closure
- Short stature
- Downslanted palpebral fissures
- Narrow chest
- Short thumb
- Short neck
- Epicanthus
- Hypoplasia of the radius
- Thrombocytosis
- Neutropenia
- Reticulocytopenia
- Congenital hypoplastic anemia
- Primary congenital glaucoma
- 11 pairs of ribs
- Depressed nasal ridge
- Hypoplastic ilia
- Failure to thrive
- Bifid thoracic vertebrae
- Hypoplastic sacral vertebrae
- Hypoplastic coccygeal vertebrae
- Cleft palate
- Absent thumb
- Intellectual disability
- Elevated red cell adenosine deaminase level
- Partial duplication of thumb phalanx
- Microcephaly
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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.
Citations
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