Genetic TestsShwachman-Diamond SBDS Sequence Analysis

• Test Name: Shwachman-Diamond SBDS Sequence Analysis
• Test Code: 2988

• Shwachman-Diamond Syndrome (OMIM #: 260400) || Gene: SBDS (OMIM #: 607444)

• PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION
• SHWACHMAN-BODIAN SYNDROME
• LIPOMATOSIS OF PANCREAS, CONGENITAL
• SDS
• SWDS
• CGI-97

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Hematogenetics