NPM1 MRD analysis by NGS

Minimum of 1 mL whole blood in a purple (EDTA) or pink top tube (EDTA); minimum of 1 mL of bone marrow aspirate in a purple, pink, or green (heparin) top tube.

The Nucleophosmin (NPM1) gene is one of the commonly mutated genes in acute myeloid leukemia (AML), occurring in about 35% of AML patients at diagnosis and 60% of adult cytogenetically normal AML (CN-AML). The vast majority of NPM1 mutations are insertions in the last exon which is often detected by PCR-fragmentation analysis for a faster turn-around-time (TAT). When the NPM1 insertion becomes negative post-treatment in the follow up specimens, the enhanced NGS analysis designed for NPM1 MRD evaluation could be used to evaluate the minimum residual diseases.

Copy of the referring client's requisition form to accompany specimen.

Refrigerated: 5 days; ambient (room temperature): 3 days; specimen must be received by laboratory within 7-days of collection.

Frozen specimen; clotted or grossly hemolyzed specimens; serum; specimens without 2 patient identifiers; serum or plasma, aliquots (previously open containers); specimen that were received >7-days after collection.

Whole blood and bone marrow - 1 week.

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