PNH Screen and High Resolution Assay

Haematology

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Description

Paroxysmal nocturnal haemoglobinuria (PNH)is an acquired stem cell disorder causing a somatic mutation in the PIG-A gene, resulting in partial or absolute deficiency of proteins linked to the cell membrane via GPI- anchor. One of these proteins is associated with the complement cascade and abnormalities can result in haemolytic anaemia and other clinical complications such as thrombotic events, aplastic anaemia and others

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Indications

Test recommended for patients who have clinical symptoms associated with PNH, once other causes have been excluded

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Sample Type

(EDTA 4.0ml Lavender) Date and time of collection to be written on sample

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Reference Range

Not applicable

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Turnaround Time

5 working days

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Testing Frequency

Daily (Monday - Friday) No out of hours or weekend service provided

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External Notes

WBC's should be tested within 24-48 hours after collection. Therefore samples should arrive in the lab by 3pm on Fridays in time to process WBC assay.

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References

1.Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry. Borowitz MJ et al. Cytometry B Clin Cytom. 2010 Jul;78(4):211-30.2.
2.Practical guidelines for the high-sensitivity detection and monitoring of paroxysmal nocturnal hemoglobinuria clones by flow cytometry. Sutherland DR et al. Cytometry B Clin Cytom. 2012 Jul;82(4):195-208.
3.ICCS/ESCCA Consensus guidelines to detect GPI-deficient cells in Paroxysmal Nocturnal Haemoglobinuria (PNH) and related Disorders. Part 1 – Clinical utility. Amy. E. Dezern and Michael J Borowitz. Cytometry Part B Clin Cytom. 2018 Jan; 94B 16-22  

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Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.