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 Test Name: SBDS seq TAT 2-4 weeks Gene: 1
Test Code: 1442 Test Name: SBDS specific site analysis TAT 7-14 days Gene: 1

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Exome 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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