Shwachman-Diamond syndrome

Clinical Genomics

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

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)

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.