Molecular Diagnostic Test

Clinical Significance:
Paroxysmal nocturnal hemoglobinuria (PNH) is a life threatening and debilitating disease. Clinically, PNH is characterized by chronic intravascular hemolysis, bone marrow failure and life threatening thrombosis. PNH evolves from a hematopoietic stem cell defect in which a somatic mutation of an x-linked gene (PIG-A) results in a partial or absolute deficiency of GPI-linked proteins. Absent or markedly diminished
expression of GPI-linked antigens is specific for all patients with PNH.

Reference: Parker C, Omine M, Richards et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood 2005;106(12):3699-3709




Who should be tested?
Patients with aplastic anemia, myelodysplastic syndrome, bone marrow failure syndromes, unexplained hemolysis.

Antibody Panels:
RBC’s: CD59
Monocytes: CD14 and FLAER
Granulocytes: CD24 and FLAER

Additional gating and GPI-linked antibodies (CD66b, CD55, CD16) may be used as needed.

Specimens:
1-2 ml peripheral blood in EDTA or Heparin (4°C or RT). Specimens need to be delivered and analyzed within 24-48 hours.


Transport:
Shipping supplies & instructions are available through

1-877-PNH-FLOW (1-877-764-3569). The flow cytometry lab should be notified of coming specimen through the shipment alert form.

UniShip courier available for clients within Maine. For clients outside of Maine, specimens should be shipped through FedEx.


CPT code:
88184
88185x4

Test performed:
Monday thru Saturday.

Test reported
Faxed or mailed within 24 hours after sample is received.

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