https://www.gosh.nhs.uk/wards-and-departments/departments/laboratory-medicine/laboratory-database/sphingomyelinase/
Sphingomyelinase
EPIC
Niemann-Pick disease A & B
Section
Chemical Pathology - Enzyme
Clinical indications
For the diagnosis of Niemann Pick A and B disease. Lysosomal sphingomyelinase is deficient in leucocytes, cultured cells and tissues in cases of Niemann Pick A and B disease
Specimen requirement
1. 5 - 10 mL lithium heparin whole blood or
2. Cultured fibroblasts or
3. Cultured chorionic villi or
4. Cultured amniotic cells
Dispatch and handling instructions
1. Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection
2. Send flask completely filled with medium at room temperature a in well insulated container. To reach lab ideally within 24 hours
3. Contact the Enzyme Laboratory PRIOR to sampling and shipping
4. Contact the Enzyme Laboratory PRIOR to sampling and shipping
Turnaround time
1. 4 to 6 weeks
2. 4 to 6 weeks
3. As soon as practically possible
4. As soon as practically possible
Synonym
Niemann-Pick disease A, Niemann-Pick disease B, Niemann-Pick disease A/B
Is it IS0 15189 accredited?
1. Yes
2. Yes
3. Yes
4. Yes