PPT/TPP (Neuronal ceroid lipofuscinoses, Battens’ Disease)
Clinical Background:
Neuronal ceroid lipofuscinoses (NCLs) are caused by lysosomal accumulation of lipopigments derived from macromolecule breakdown. Typical clinical features include epilepsy, cognitive and developme...
Neuronal ceroid lipofuscinoses (NCLs) are caused by lysosomal accumulation of lipopigments derived from macromolecule breakdown. Typical clinical features include epilepsy, cognitive and developmental regression and loss of vision. There are over 14 different genes causing NCLs.
Investigations vary according to the NCL type and may include analysis of the enzymes palmitoyl protein thioesterase I (PPT1) for diagnosis of classic infantile NCL and tripeptidyl peptidase I (TPP1) for diagnosis of classic late infantile NCL.
Lymphocyte electron microscopy of lymphocytes may be useful in the diagnosis of NCLs.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA whole blood for enzyme analysis.
EDTA whole blood for electron microscopy
N.B. If both enzymes and EM are required, two EDTA sample should be taken.
EDTA whole blood for enzyme analysis.
EDTA whole blood for electron microscopy
N.B. If both enzymes and EM are required, two EDTA sample should be taken.
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Specimen Container Paediatric:
EDTA whole blood for enzyme analysis.
EDTA whole blood for electron microscopy
N.B. If both enzymes and EM are required, two EDTA sample should be taken.
EDTA whole blood for enzyme analysis.
EDTA whole blood for electron microscopy
N.B. If both enzymes and EM are required, two EDTA sample should be taken.
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Minimum Volume Adult:
5 ml for enzyme analysis
1 ml for electron microscopy
5 ml for enzyme analysis
1 ml for electron microscopy
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Minimum Volume Paediatric:
5 ml for enzyme analysis
1 ml for electron microscopy
5 ml for enzyme analysis
1 ml for electron microscopy
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Special Requirement:
Must reach RVI metabolic lab within 24 hours of sample collection and before 2pm on Fridays.
Must reach RVI metabolic lab within 24 hours of sample collection and before 2pm on Fridays.
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Transport Requirements:
Transport at room temperature
Transport at room temperature
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Interpretation:
Provided on report
Provided on report
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: