Tay Sachs disease is caused by deficiency of the beta-hexosaminidase A enzyme. Sandhoff disease is caused by deficiency of hexosaminidase A & B. Both are lysosomal storage disorders which result in accumulation of GM2 ganglioside.
Tube
03 (EB) – EDTA Blood
ID
Tests&Tubes0200
Additional information
5 mL EDTA whole blood required. Please collect Mon-Wed only.
Turn around
Turnaround time stated by the Willink laboratory: 2 weeks.
Send to
Blood Sciences LGI
(Test referred to: the Willink laboratory)
Manchester.
Contact
For further details please contact Leeds Pathology customer services: [email protected]
Advice
Full Referred Test details logged internally on the referred test database [BSF2REC17003]
Download
Collection Con
5 mL EDTA whole blood required. Collect Mon – Wed only. Instructions to lab: do not centrifuge. Store blood in fridge until dispatch.
Sample REQ
Blood
Ref. Range Notes
Hex A: Plasma 50 – 250 nmol/ml/hr.
Hex A & B: Plasma 600 – 3500 nmol/ml/hr
Units
nmol/mL/h