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Diamond-Blackfan Anemia
Blackfan-Diamond Syndrome
RPS19 (ribosomal protein S19)
RPL5 (ribosomal protein L5)
RPL11 (ribosomal protein L11)
Diamond-Blackfan anemia usually presents with hypoplastic anemia in early infancy. Hematologic examination shows macrocytosis and a decrease in erythroid precursers. Over 40% 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. Mutations in RPL5 appear to be associated with craniofacial abnormalities, particularly cleft lip and palate. About 27% of patients with DBA have mutations in RPS19, 10% have mutations in RPL5, 5% have mutations in RPL11 and many instances of DBA can not be associated with any known gene to date.
Analysis is performed by bi-directional sequencing of the coding regions and splice sites of the 6 exons of the RPS19 gene, the 8 exons of the RPL5 gene or the 6 exons of the RPL11 gene. 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 the RPS19 gene. Mutations detectable in RPS19 by deletion/duplication testing account for <3% of identifiable DBA mutations.
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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