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ID:435 Neuronal Ceroid Lipofuscinoses (Batten Disease)
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DescriptionNeuronal Ceroid Lipofuscinoses (commonly still referred to as Battens 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.
IndicationFor investigating suspected cases of neuronal ceroid lipofuscinoses.
Additional InfoAn 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.
Concurrent Testsna
Dietary Requirementsna

InterpretationContact analysing laboratory.

Ref. Range (Male)
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range Notes
Units - Not Defined -

IP Acute TAT6 weeks
IP Routine TAT6 weeks
GP Acute TAT6 weeks
GP Routine TAT6 weeks
Turnround CommentMrs Kate Harvey / Derek
Originally edited by : Robert Barski. Last edited on 17/10/2017. Published By R.Barski on 17/10/2017.