Shwachman-Diamond syndrome

Shwachman-Diamond syndrome is an inherited multisystem hematology-oncology disorder that can affect the pancreas, blood, bone marrow, and skeletal system.  Because of the broad range of clinical findings (even within the same family), confirming a clinical diagnosis can greatly impact medical management. 
Quick Reference
Test Code 1440
Turnaround Time (TAT) 2-4 weeks
Number of Genes 1

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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 or multigene panel testing* 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 Ambry report date.

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*excludes Secondary Findings and SNP Array tests

Test Description

Our SBDS full gene sequence analysis is performed by PCR-based double stranded automated sequencing in the sense and antisense directions for exons 1-5 of the SBDS gene, plus at least 5  bases into the 5’ and 3’ ends of all the introns. The assay design prevents unwanted amplification of the pseudogene.

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