beta(β)-galactosidase

An enzyme whose activity is reduced in in two separtate lysosomal storage disorders: Mucopolysaccharide Type IVB (Morquio syndrome) and GM1 gangliosidosis. Clinical indication for requesting: Confirmation of Mucopolysaccharidosis IVB (MPS IVB) or GM1 gangliasidosis.
Tube | 03 (EB) - EDTA Blood |
---|---|
ID | Tests&Tubes0266 |
Additional Information | Only send samples Monday to Wednesday before 1pm. |
Turn Around | Turnaround time stated by the Willink lab: 3 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. |
Collection Con | Requires 5 mL EDTA whole blood. Only send samples Monday to Wednesday before 1pm. Instructions to lab: 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 | Leucocytes 100 - 400 nmol/mg/hr |
Units | nmol/mg/hr |
Telepath | BGSD1R & SA1R |
ICE Codes | BGALDR |