Genetic Test Details | Ontario Health

Shwachman-Diamond Syndrome

Test Information

Title: Shwachman-Diamond Syndrome
Lab: The Hospital for Sick Children
Category: Hematology
Test Name (CMS Title): Shwachman-Diamond Syndrome
Gene/Platform/Region List: SBDS
Test type: Single Gene
Samples Accepted: Blood, DNA
Indications: Diagnosis, Carrier Cascade Testing
Test Methodology: Sequencing
Methodology Notes: Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing
Disease/Condition: Shwachman-Diamond Syndrome

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