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Paediatric Laboratory Medicine

Sphingomyelinase, fib

Test Name

Sphingomyelinase, fib

Test Code



Metabolic Diseases


Niemann-Pick A and B Variants

Specimen Type

Fibroblasts preferred

Special Requirements

Lysosomal Enzymes from Blood Samples
Draw 5-6 mL of heparinized peripheral blood
Fresh heparinized blood should be drawn early enough in the day to arrive in the laboratory by 3:00 p.m. that day
Consult the Laboratory if other arrangements are necessary
Several of the assays available can be performed on a single leukocyte pellet or  plasma sample

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Phone: 416-813-7200
Phone: 1-855-381-3212

Reference Range

28-145 nmol/h/mg