Shwachman-Diamond Syndrome
| Test Information | |
|---|---|
| Test Name | Shwachman-Diamond Syndrome |
| Lab (Location) | The Hospital for Sick Children |
| Category | Hematology |
| Subcategory | Shwachman-Diamond Syndrome |
| Gene/Platform/Region List | SBDS |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | Sequencing |
| Methodology Notes | Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing |
| Diseases/Conditions | Shwachman-Diamond Syndrome |