Shwachman-Diamond Syndrome via the SBDS Gene
Use
This test is designed for individuals who exhibit clinical features or have a suspected diagnosis of Shwachman-Diamond syndrome. It is also useful for individuals who have a family history of the condition and wish to determine their carrier status, as well as for reproductive partners of individuals with a known pathogenic variant in the SBDS gene. Accurate diagnosis and carrier status determination are crucial for appropriate clinical management and family planning.
Special Instructions
The test accommodates multiple specimen types including blood, buccal, saliva, and tissue samples. It is New York approved, and the turnaround time is 3 to 4 weeks, with the option of expedited (STAT) processing. Institutional pricing is available upon sign-in, and ordering requires the completion of a test requisition form which can be faxed if not submitted online through the myPrevent portal.
Limitations
The test utilizes Sanger sequencing, which is highly precise for detecting specific variants in the SBDS gene. However, it may not detect all possible genetic variants or structural alterations outside the targeted regions. Confirmation of results and clinical correlation with family history and other diagnostic information are recommended for accurate interpretation.
New York Approved
Methodology
Sanger
Biomarkers
Result Turnaround Time
12-19 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided