Affected enzyme in Pompe disease – a lysosomal storage disorder. Clinical indication for requesting: suspicion of Pompe disease.
Tube
03 (EB) – EDTA Blood
ID
Tests&Tubes0264
Additional Information
Only send samples Monday to Wednesday before 1pm
Turn Around
Turnaround time stated by the Willink lab: 2 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]
Collection Con
5 mL EDTA whole blood required. Only send samples Monday to Wednesday, before 1pm. Instructions to lab: DO NOT CENTRIFUGE. Must reach Willink laboratory within 48 hrs of collection. Send upon arrival by first class post. Store in fridge while preparing paperwork
Sample REQ
Blood
Ref. Range Notes
3 to 20 nmol/mg/hr – acarbose
2 to 15 nmol/mg/hr + acarbose
Units
nmol/mg/hr