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 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 |
| Telepath | LGI superset LPOMP; SJUH superset JPOMP. |
