Hexosaminidase A&B (Tay Sachs and Sandhoff's disease)
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|
|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)
|Contact||For further details please contact Leeds Pathology customer services: firstname.lastname@example.org.|
|Advice||Full Referred Test details logged internally on the referred test database [BSF2REC17003]
|Collection Con||5 mL EDTA whole blood required. Collect Mon - Wed only. Instructions to lab: do not centrifuge. Store blood in fridge until dispatch.|
|Ref. Range Notes||Hex A: Plasma 50 – 250 nmol/ml/hr.
Hex A & B: Plasma 600 – 3500 nmol/ml/hr
|Telepath||No code. Book in as PROB1L (comment NRSOT) & SA1R|