Turnaround times
The quoted turnaround time is from sample receipt in the laboratory, to results authorisation in the Laboratory Information Management system. The times do not include transport of specimen to the laboratory or the administrative process to print and post/email reports. Service users must allow for transport and reporting time when ordering tests.
Clinical background:
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.
Specimen container paediatric:
EDTA whole blood for enzyme analysis.EDTA whole blood for electron microscopyN.B. If both enzymes and EM are required, two EDTA sample should be taken.
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.
Minimum volume paediatric:
5 ml for enzyme analysis1 ml for electron microscopy
Minimum volume adult:
5 ml for enzyme analysis1 ml for electron microscopy
Special requirements:
Must reach RVI metabolic lab within 24 hours of sample collection and before 2pm on Fridays.
Transport requirements:
Transport at room temperature
Interpretation:
Provided on report