Neuronal Ceroid Lipofuscinoses (commonly referred to as Batten disease) are among the most common neurometabolic disorders. These are initially investigated by the measurement of the enzymes palmitoyl protein thioesterase (PPT) and tripeptidyl peptidase 1 (TPP). This additional test for vacuolated lymphocytes (sometimes referred to as Batten histology) may be required if initial enzyme tests are normal and there is still a strong clinical suspicion.
Tube
03 (EB) – EDTA Blood
ID
Tests&Tubes0158
Additional Information
**Please discuss request with Duty Biochemist before collecting sample – 0113 39 26922 option 2**. Must reach GOSH within 24h of sample collection.
Turn Around
Turnaround time stated by GOSH: 40 days.
Send to
Blood Sciences LGI
(Test referred to: Great Ormond Street Hospital).
Contact
For further details please contact Ä¢¹½tvÊÓƵ 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**:
Minimum Volume: 2 ml whole blood.
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 (Male)
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range Notes
Interpretation will be provided on report.