Lysosomal enzymes

Referred to Biochemical Genetics, Genetics Centre, Guy's Hospital. London SE1 9RT

Alternative names, keywords

White cell enzymes

Samples required

5 - 10 mL lithium heparin blood (green cap, 6 mL tube - smaller tubes are available for paediatric samples).

Samples must reach the referral laboratory within 24h of collection - DO NOT send on a Friday, and ensure that samples are collected and brought to the lab by mid-afternoon so we can arrange onward transport.

Test indications


Test information

Two screening panels are available - hepato(spleno)megaly and neurodegenerative. Please supply full clinical details to allow the referral laboratory to carry out the appropriate combination of tests.

Reference range

See report.

Turnaround time

Referral lab quotes turnaround time of 6-8 weeks, however additional time must be allowed for packing, dispatch and delivery of sample, and return and processing of results.


Biochemistry (Referrals)