The Leeds Teaching Hospitals NHS Trust

Pompe screen

First line screening test for Pompe's disease (alpha-glucosidase deficiency). The required sample type for this test is a dried blood spot. If there is strong clinical suspicion or an abnormal bloodspot screening result, a diagnostic specimen will be required (please refer to alpha-glucosidase entry for these sample requirements).

Tube Dried Blood Spot
ID Tests&Tubes0232
Additional Information EDTA blood also acceptable. If EDTA tube sent, blood must be spotted onto a card immediately. Speak to a reception supervisor if unable to do this. See below.
Send to Blood Sciences LGI
(Test referred to: the Willink laboratory)
Manchester.
Contact For further details please contact Leeds Pathology customer services: leedsth-tr.pathologycustomerservice@nhs.net.
Collection Con Instructions to lab: If EDTA tube sent, blood must be spotted onto a card immediately. Please speak to a reception supervisor if unable to do this. At LGI, blood spot cards are stored in the referred tests desk drawer. Check expiry date of card. Label card. Mix sample by inversion. Using a squeezy pipette, spot one drop onto each circle. Leave to dry at ambient temperature before sending to the Willink lab. A request card must also be sent. Blood must be spotted within 2 days.
Sample REQ Blood
Ref. Range Notes blood spot α-glucosidase 7.3 - 39.0 pmol/punch/hour
Units pmol/punch/hour
Telepath LGI superset LPOMP; SJUH superset JPOMP.