White Cell Enzymes (WCE) Screen

Specimen

Large EDTA whole blood

Special Instructions

Sample for White Cell Enzymes needs to arrive in the laboratory after 1 pm and before 15.00 on day of collection, as it must be received at the referral laboratory and processed within 24 h of sample collection. Do not send on a Friday, Monday – Thursday ONLY. Any samples received on a Friday will be rejected.

Reference Range

A comment will be issued with the report.

Test Usage

Deficiencies in specific lysosomal enzymes result in disorders collectively known as the mucopolysaccharidoses. These enzymes are involved in the degradation of dermatan sulphate, heparan sulphate and keratan sulphate.

Incompletely metabolised mucopolysaccharides accumulate in tissues and are excreted in the urine.

The white cell enzyme screen incorporates a 17-panel screen for the following conditions:

• Metachromatic Leukodystrophy
• I-cell disease
• Fabry disease
• GM1 Gangliosidosis
• Fucosidosis
• Mannosidosis
• MPS type VII
• Sandhoff disease
• Tay Sachs disease
• Schindler disease
• Chitotriosidase (Gaucher)
• Classic Infantile NCL (CLN1)
• Classic late Infantile NCL (CLN2)
• Niemann Pick A and B
• Krabbe Leukodystrophy
• Aspartylglucosaminuria

Availability

Referred test

Turnaround Time

21 days

Cannot be added on to an existing request