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Additional Information:

Consultant Approved Referral Test. Paroxysmal Nocturnal Haemoglobinuria (PNH) is a rare, life threatening, acquired haematopoetic stem cell disorder that affects all blood cell lineages. Somatic mutation of the X-linked phosphatidylinositol glycan complementation Class A (PIG-A) gene leads to partial or absolute deficiency of all proteins linked to the cell membrane by a glycol-phosphatidylinositol (GPI) anchor.