Shwachman-Diamond Syndrome

Test Information

Titre
Shwachman-Diamond Syndrome
Catégorie
Hematology
Test Name (CMS Title)
Shwachman-Diamond Syndrome
Gene/Platform/Region List
SBDS
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing
Disease/Condition
Shwachman-Diamond Syndrome

Dernière Mise à Jour: 09 décembre 2025