Paroxysmal Noctural Hemoglobinuria Panel

Container Type: Peripheral Blood in EDTA.
Preferred Volume: 1.0 - 5.0 ml

PNH is a rare form of acquired hemolytic anemia characterized as a myeloid stem cell neoplasm with somatic mutation of the X-linked phosphatidylinositol glycan complementation class A (PIG-A) gene. Absence of PIG-A gene results in a partial or absolute deficiency of all proteins normally linked to the cell membrane by a glycosylphosphatidylinositol (GPI) anchor. This results in an increased sensitivity of erythrocytes to complement mediated lysis due to deficiency of membrane bound GPI anchored proteins, which normally function as inhibitors of reactive hemolysis. Similar immunophenotypic findings can be seen in myelodysplastic syndromes and aplastic anemia. GPI deficiency is most easily assessed in the erythroid, granulocyte, and monocytic lineages by flow cytometry. The assay evaluates for a loss of expression of GPI linked proteins including CD59 on red cells, CD16, CD24, and FLAER on the granulocytes, and CD14 and FLAER on the monocytes. Any PNH red cell clone identified will be further quantitated into clones with partial loss (type II) vs. complete loss (type III) clones.

1) Requisition form with the patient’s name, DOB, DOC and recent treatments.
2) CBC report for Peripheral Blood.

Peripheral Blood: 48-72hrs, transport at room temperature.

Specimens without 2 (two) patient identifiers. Incorrect anticoagulant or lack of anticoagulant, frozen or incorrectly stored specimens (i.e. excessive heat or cold), severely hemolyzed specimens (minimal hemolysis will be evaluated on a case-by-case basis), broken or leaking tubes, specimens received with needles affixed, submitted in fixative - no fixative is acceptable!, specimen age: >72 hours for peripheral blood and >5 days for bone marrow *see note below, clotted specimens (small clots are acceptable-others evaluated on a case-by-case basis), contamination (bacterial, fungal, drug interaction, chylous, etc.), incorrectly labeled specimens or insufficient transport media for tissues and FNA’s.

*Note: Peripheral blood specimens >72-hours old are reported on a case-by-case basis and must be approved by the pathologist reviewing the case. Bone marrow specimens >5-days old are reported on a case-by-base basis and must be approved by the pathologist reviewing the case.

*Note: Peripheral blood specimens >72-hours old are reported on a case-by-case basis and must be approved by the pathologist reviewing the case.

CellNetix does NOT accept specimens where prion diseases (CJD or other types of TSEs) are suspected. These specimens should be sent by the provider directly to the National Prion Pathology Surveillance Center at Case Western Reserve University.

1 week.

These tests were developed and the performance characteristics determined by CellNetix Pathology & Laboratories. They have not been cleared or approved by the US Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This laboratory is certified under CLIA-88 and is qualified to perform high complexity clinical testing. Prognostic and predictive testing should be interpreted in the context of additional clinical and/or histopathological findings.