Affected enzyme in Gaucher disease – a lysosomal storage disorder. Enzyme also known as glucocerebrosidase. Clinical indication for requesting: confirmation of Gaucher disease.
Tube
03 (EB) – EDTA Blood
ID
Tests&Tubes0267
Additional Information
Only send samples Monday to Wednesday before 1pm.
Turn Around
Turnaround time stated by the Willink lab: 3 weeks.
Send to
Blood Sciences LGI
(Test referred to: the Willink laboratory, Manchester)
Contact
For further details please contact Leeds Pathology customer services: [email protected].
Advice
Collection Con
Requires 5 mL EDTA whole blood. Only send samples Monday to Wednesday before 1pm. Instructions to lab: Do not centrifuge. Must reach Willink laboratory within 72 hrs of collection. Send upon arrival by first class post. Store in fridge while preparing paperwork.
Sample REQ
Blood.
Ref. Range Notes
Leucocytes 1 to 5 nmol/mg/hr
Units
nmol/mg/hr