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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- Order a Sample Kit
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.
Order Now*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.
