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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.

DepartmentBiochemistry
SamplePlasma
TubeHeparin
Tube Picture
Collection ConditionsPlease contact the laboratory before taking sample. Samples must be in the lab before 13.00 Mon, Tues, Wed or Thurs; DO NOT collect samples outside these times. Samples have to be sent to London by courier, must arrive and be processed within 24 hours. If vacuolated lymphocytes are required an EDTA sample must also be sent (above conditions still apply). Lab staff please refer to additional requirements in lab section of T&T.
Min. Vol5 mL EDTA Adults. 1mL EDTA neonates
Freq. Referred to external 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 Burke:helen.aitkenhead@gosh.nhs.uk

Originally edited by : Robert Barski. Review due on 17/10/2017. Published By R.Barski on 17/10/2017.