Galactokinase
Galactokinase is the missing enzyme in galactokinase deficiency, which causes one form of galactosaemia.
| Tube | 06 (HP) - Heparin No Gel |
|---|---|
| ID | Tests&Tubes0194 |
| Additional Information | **Please only collect Mon - Wed** |
| Turn Around | Turnaround time stated by Bristol Southmead Hospital: 4 weeks |
| Send to | Blood Sciences LGI (Test referred to: Bristol Southmead Hospital.) |
| 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 | Please only collect Mon-Weds. Minimum 1 mL lithium heparin whole blood required. Instructions to lab: do NOT centrifuge. Store in fridge until dispatch. Must be received by referral lab within 24 hours of sample collection. |
| Sample REQ | Blood |
| Ref. Range Notes | 0-6 months: 3.7 - 9.0 umol/hr/gHb >6 months: 1.5 - 4.0 umol/hr/gHb |
| Units | umol galactose converted/hr/gHb |
| Telepath | GALK1R (adds SA1R) |
