Differential diagnostics for ASMD in patients suspected to have GD
Objective
- To demonstrate benefits of differential diagnosis within primary diagnostic testing.
- To improve detection rate of potential ASMD, avoid diagnostic delays.
A multicenter, prospective study
DBS testing
- GBA enzyme activity
- ASM enzyme activity
Positive Cases
- Genetic confirmatory testing
Results
Genetic confirmatory testing done for 5933 cases
| SMPD1 gene sequencing for 1171 cases | GBA gene sequencing for 4762 cases |