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 |
|---|---|
| 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: leedsth-tr.pathologycustomerservice@nhs.net. |
| Advice | Full Referred Test details logged internally on the referred test database [BSF2REC17003] http://leedspath.myeqms.com/Administrator/LoadDocADM.asp?ID=82998&Ext=True&CCID=1 |
| 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 |
| Telepath | No code. Book in as PROB1L (comment NRSOT) & SA1R |
