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 Ä¢¹½tvÊÓƵ Pathology customer services: [email protected].
Advice
Full Referred Test details logged internally on the referred test database [BSF2REC17003] Download
Collection Con
Collection Conditions
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