Fabry screen
First line screening test for Fabry's disease (alpha-galactosidase deficiency). This screen should be the first line test for this disorder. If there is strong clinical suspicion or an abnormal bloodspot screening result, a diagnostic specimen will be required (please refer to White Cell Enzyme entry for these sample requirements).
| Tube | Dried Blood Spot |
|---|---|
| ID | Tests&Tubes0186 |
| Additional Information | Dried blood spot card or EDTA whole blood sample required. If EDTA tube sent, blood must be spotted onto a card immediately. |
| Turn Around | Turnaround time stated by the Willink lab: 4 weeks. |
| 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. |
| Advice | Full information on all referred tests can be found on the referred tests information database, EQMS reference BSF2REC17003. |
| Collection Con | Minimum Volume: 2 full circles. 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 | 6.3 - 47.0 pmol/punch/hr |
| Units | pmol/punch/h |
| Telepath | LGI superset LFBRY. SJ superset JFBRY. |
