Batten disease enzymes (Palmitoyl protein thioesterase I & Tripeptidyl peptidase I)
Neuronal Ceroid Lipofuscinoses (commonly referred to as Batten disease) are among the most common neurometabolic disorders. These are investigated by the measurement of the enzymes palmitoyl protein thioesterase (PPT) and tripeptidyl peptidase 1 (TPP). PPT is measured for the infantile forms INCL, NCL1 & CLN1. TPP is measured for the classic late infatile forms LINCL, NCL2 & CLN2. An additional test for vacuolated lymphocytes (sometimes referred to as Battens histology) may be requested/required if initial enzyme tests are normal and there is still a strong clinical suspicion.
| Tube | 06 (HP) - Heparin No Gel |
|---|---|
| ID | Tests&Tubes0157 |
| Additional Information | **Please discuss request with Duty Biochemist before collecting sample - 0113 39 26922 option 2**. 5-8 mL heparin whole blood required. Must reach GOSH within 24h of sample collection. |
| Turn Around | Turnaround time stated by GOSH: 6 weeks |
| Send to | Blood Sciences LGI (Test referred to: Great Ormond Street Hospital.) |
| 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 | Collect Mon - Weds only. **Instructions to lab**: Do NOT centrifuge. Store whole blood sample in fridge. Must be sent by courier to reach GOSH within 24h of sample collection. |
| Sample REQ | Blood |
| Ref. Range Notes | Interpretation will be provided on report. |
| Telepath | BATE1R & SA1R |
