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Clinical Genomics
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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.
Genetic test for Shwachman-Diamond syndrome by Ambry Genetics

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.

Genes analyzed
Code
Test Name
Turnaround
Genes
1440
Shwachman-Diamond syndrome
2-4 weeks
1 Gene
–
SBDS specific site analysis
7-14 days
1 Gene
Shwachman-Diamond syndrome
1 Gene
SBDS
SBDS specific site analysis
1 Gene
SBDS
Test Requisition Form
Comprehensive
(EN)