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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. About 27% of patients with DBA have mutations in RPS19, while several other genes account for a small percentage each and many DBA patients can be associated with no known gene to date.
Analysis is performed by bi-directional sequencing of the coding regions and splice sites of exons 1-6 of the RPS19 gene. In addition, if no mutation is found by sequencing, focused array CGH analysis with exon-level resolution (ExonArrayDx) is available to evaluate for a deletion or duplication of one or more exons of this gene.
For more details see the linked Information Sheet below:
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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