Perforin expression
Clinical Background:
Useful in the investigation of Familial Haemophagocytic Lymphohistiocytosis (FHLH). 30% of cases are caused by defects in perforin.
Useful in the investigation of Familial Haemophagocytic Lymphohistiocytosis (FHLH). 30% of cases are caused by defects in perforin.
Test Details
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Discipline:
Immunology
Immunology
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Specimen Container Adult:
Whole Blood EDTA + normal control
Whole Blood EDTA + normal control
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Specimen Container Paediatric:
Whole blood-EDTA + normal control
Whole blood-EDTA + normal control
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Minimum Volume Adult:
4 ml
4 ml
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Minimum Volume Paediatric:
4 ml
4 ml
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Special Requirement:
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 fr...
Read MoreThe 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.
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Transport Requirements:
Please sent to Flow Cytometry, Blood Sciences Lab, RVI.
Please sent to Flow Cytometry, Blood Sciences Lab, RVI.
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Freq Analysis:
As required
As required
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Add On Test:
Not possible.
Not possible.
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Interpretation:
None
None
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Reference Ranges:
Normal Result: Normal
Normal Result: Normal
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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 XI...
Read MoreDefects 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.
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Routine Contact Name:
Flow Cytometry Lab
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Routine Telephone:
0191 282 5078
0191 282 5078
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Routine Email: