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 on 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 Ä¢¹½tvÊÓƵ Pathology customer services: [email protected].
Advice
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 for at least 4 hours 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 – 37.0 pmol/punch/hour
Units
pmol/punch/hour