Genetic Test Details

Shwachman-Diamond Syndrome

Test Information

Title
Shwachman-Diamond Syndrome
Category
Hematology
Sub Category
Shwachman-Diamond Syndrome
Gene/Platform/Region List
SBDS
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing, Prenatal
Test Methodology
Sequencing
Methodology Notes
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing
Disease/Condition
Shwachman-Diamond Syndrome

Last Updated: November 26, 2025