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. 

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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

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Test Description

Ambry’s Shwachman-Diamond syndrome testing uses full gene sequence analysis 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. Specific Site Analysis for individual SBDS mutations known to be in the family is also available.

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