Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome typically presenting in the first year of life. It may be associated with physical malformations, increased risk for leukemia, and blood abnormalities.
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Test Code 8550
Turnaround Time (TAT) 2-4 weeks
Number of Genes 11

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Test Description

Our DBANext genetic test includes NGS and deletion/duplication of RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17, RPS7, RPL19, and (exon level coverage not available for RPS7).  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and next generation sequencing (NGS).

Additional Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions.  Gross deletion/duplication analysis is performed utilizing a targeted chromosomal microarray.


1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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