Batten disease histology (vacuolated lymphocytes)
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|
|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 Leeds Pathology customer services: firstname.lastname@example.org.|
|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||Collection Conditions
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.
|Ref. Range Notes||Interpretation will be provided on report.|
|Telepath||BATH1R & SA1R|