This test measures a panel of lysosomal enzymes for investigating a number of lysosomal storage disorders (but note not all LSDs are investigated with this panel). The following disorders are investigated in the panel: Sandhoff disease, I-cell disease, Beta-Mannosidosis, Tay-Sachs disease, Aspartylglucosaminuria, Sly disease (MPS VI), GM1-gangliosidosis, Alpha-Mannosidosis, Fabry disease, Fucosidosis, Wolman/cholesterol ester storage disease, Metachromatic Leucodystrophy, Gaucher disease, Niemann-Pick types A & B, Krabbe Leucodystrophy, Schindler disease. Please note: If individual disorders are being considered, please write the name of the disorder you wish to investigate. If advice is not available locally then the paediatric metabolic consultant on call at the Willink can be contacted through their hospital switchboard on 0161 276 1234. Ask for the paediatric metabolic consultant on call. Please try and collect at least 5 mL EDTA blood for this test. Smaller volumes of blood cause poor quality results and are likely to need a repeat sample. Samples with less than 3 mL of blood are insufficient for analysis and will not be sent.
Tube
03 (EB) – EDTA Blood
ID
Tests&Tubes0261
Additional Information
Contact Duty Biochemist before sending sample (0113 39 26922, option 2). Samples for white cell enzymes must be in the lab before 1PM Mon, Tues, Wed; Please do not collect samples outside these times. Samples have to be sent to Manchester and be processed within 72 hours of collection. **5 mL EDTA blood required**
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].
Collection Con
Please collect only on Mon/Tue/Wed, and send to lab before 1pm. Instructions to lab: do not reject any problem samples without discussing with duty biochemist. Requires at least 3ml of whole EDTA blood. Can be done on heparin as a last resort. In ADULTS don’t request full white cell enzyme profile – write specific enzyme test on request form. Please contact the Willink for samples <3ml if a repeat sample cannot be collected. Do not centrifuge. Must reach Willink laboratory within 72 hrs of collection. Send upon arrival by first class post. Store in fridge while preparing paperwork.
Sample REQ
Blood.
Ref. Range Notes
Interpretation will be provided on the report.