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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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.

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Test Description

Our DBANext genetic test includes NGS and deletion/duplication of RPL5, RPL11, RPL19, RPL26, RPL35A, RPS7 (gene level coverage only), RPS10, RPS17, RPS19, RPS24, and RPS26. 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. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality 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 using read-depth from NGS data. Any copy number changes detected by NGS are confirmed by targeted chromosomal microarray or MLPA.

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