Newcastle Laboratories

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

  • Discipline:

    Immunology

    Immunology

  • Specimen Container Adult:

    Whole Blood EDTA + normal control

    Whole Blood EDTA + normal control

  • Specimen Container Paediatric:

    Whole blood-EDTA + normal control

    Whole blood-EDTA + normal control

  • Minimum Volume Adult:

    4 ml

    4 ml

  • Minimum Volume Paediatric:

    4 ml

    4 ml

  • 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...

    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.

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  • Transport Requirements:

    Please sent to Flow Cytometry, Blood Sciences Lab, RVI.

    Please sent to Flow Cytometry, Blood Sciences Lab, RVI.

  • Freq Analysis:

    As required

    As required

  • Add On Test:

    Not possible.

    Not possible.

  • Interpretation:

    None

    None

  • Reference Ranges:

    Normal Result: Normal

    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 XI...

    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.

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  • Routine Contact Name:

    Flow Cytometry Lab

  • Routine Telephone:

    0191 282 5078

    0191 282 5078

  • Routine Email:

Availability:

This test is only available by prior arrangement with the laboratory (Ext: 25078) and discussion with a clinical immunologist (paediatric or adult).

This test is not possible on a Friday

Turn Around:

4 days

Send To:

Department of Blood Sciences

Level 3
Leazes Wing
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP

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