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:
Useful in the investigation of Familial Haemophagocytic Lymphohistiocytosis (FHLH). 30% of cases are caused by defects in perforin.
Specimen container paediatric:
Whole blood-EDTA + normal control
Specimen container adult:
Whole Blood EDTA + normal control
Minimum volume paediatric:
4 ml
Minimum volume adult:
4 ml
Special requirements:
The requesting clinician must arrange for a control sample from a healthy volunteer to arrive at the same time as the patient’s sample (please label control). Samples should ideally be tested as fresh as possible. Keep at room temperature at all times. Samples should arrive in the laboratory no later than 14:00 to be processed the same day.
Transport requirements:
Please sent to Flow Cytometry, Blood Sciences Lab, RVI.
Freq analysis:
As required
Add on test:
Not possible.
Interpretation:
None
Reference ranges:
Normal Result: Normal
Other info:
Defects are also associated with macrophage activation syndrome in JIA and with lymphoma. Granule release assay should also be requested as part of FHLH investigation. If both are normal SAP and XIAP should be excluded in males.