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Diamond-Blackfan Anemia
Blackfan-Diamond Syndrome
RPS19 (ribosomal protein S19)
Diamond-Blackfan anemia usually presents with hypoplastic anemia in early infancy. Hematologic examination shows macrocytosis and a decrease in erythroid precursers. About 1/3 of affected children have congenital anomalies including malformations of the thumb and upper limbs, cardiomegaly (e.g. VSD), and growth retardation. Affected individuals are at increased risk to develop leukemia.Using genomic DNA obtained from buccal (cheek) swabs or blood, each of the 5 coding RPS19 exons is screened by bi-directional sequence analysis. Mutations in the RPS19 gene have been found to underlie Diamond-Blackfan anemia in about 25% of patients studied. There is some evidence of another Diamond-Blackfan anemia locus as well; specifically linkage studies have indicated the involvement of a region on chromosome 8p (although no gene has been identified at this locus). Other families appear to link to neither 19q nor 8p.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Diamond Blackfan Anemia, Blackfan Diamond Syndrome, Leukemia, Anemia, RPS19, limb, limb anomalies, thumb, thumbs, erythroid
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