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Lysosomal storage disease (LSD) screening test [LC-MS/MS]
| GC Labs code | N403 | Test Field | Metabolism |
|---|---|---|---|
| Compulsory forms | |||
Information
| Test method | LC-MS/MS (Liquid chromatography-MS/MS) |
|---|---|
| Specimen (mL) | 4 holes of blood paper |
| Specimen storage | Ambient |
| Specimen stability | - |
| Test schedule | Mon-Fri |
| Analytical time (day) | 3 |
| Reference range/Unit | Lysosomal storage disease (LSD) screening test [LC-MS/MS] [Blood Paper] See comments in the report ========================== Hurler (Scheie) disease (MPS I) [Blood Paper] See comments in the report Pompe disease [Blood Paper] See comments in the report Gaucher disease [Blood Paper] See comments in the report Fabry disease [Blood Paper] See comments in the report Niemann-Pick A/B disease [Blood Paper] See comments in the report Krabbe disease [Blood Paper] See comments in the report |
|---|---|
| Clinical Significance | Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) |
| Remark | 1. Unsuitable specimen ① Specimen that is not completely dried ② Specimen collected from hands with hand cream on them ③ Specimen whose back side collected in a specimen hole is not sufficiently wet ④ Specimen from which tissue fluid has come out 2. If a test cannot be requested within 3 days after collection, keep refrigerated or frozen |