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 to 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: [email protected].
Advice
Full Referred Test details logged internally on the referred test database [BSF2REC17003]
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.
Important: Samples should be sent by courier at ambient temperature.
Sample REQ
Blood
Ref. Range Notes
Interpretation will be provided on report