In galactokinase deficiency, there is a dramatic increase in urine galactitol.
Tube
08 (UR) – Urine
ID
Tests&Tubes0193
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: [email protected].
Advice
Full information on all referred tests can be found on the referred tests information database, EQMS reference BSF2REC17003.
Collection Con
Instructions to lab: store in freezer.
Minimum volume: 5 mL urine
Sample REQ
Urine
Ref. Range Notes
< 3m: 3 – 80 umol/mmol creatinine
3-12m: 10 – 65 umol/mmol creatinine
1 y: 6 – 22 umol/mmol creatinine
2-5y: 3 – 17 umol/mmol creatinine
6-14y: 2 – 10 umol/mmol creatinine
15+ : 2 – 4 umol/mmol creatinine
Units
umol galactitol / mmol creatinine