Genetic mutation test kit

geneticclinicallaboratory

Xpert ® NPM1 Mutation is an automated test for quantifying the amount of mutant NPM1 mRNA transcripts (types A, B, and D in exon 12) as a ratio of NPM1 Mutation/ABL1 with high sensitivity. The Need Acute myeloid leukemia (AML), is the most common acute leukemia in adults. It represents about 80% of acute leukemia in adults, with a median age at diagnosis of 67-68 years.1-3Across European countries, the incidence is 3.5 cases per 100,000 population per year and the five-year survival is 17.5% approximately.1,3 Nucleophosmin (NPM1) is one of the most common genetic abnormalities in AML, accounting for about 30% to 35% ofcases.4-6The majority of NPM1 mutations in AML are restricted to exon-12 harboring type A (75% to 80%), type B (10%), and type D (5%) mutations.4,6,7 The determination of NPM1 mutation status has become essential for the molecular classification of AML. Methods with high clinical sensitivity and specificity adapted to the molecular laboratory workflow are required for the diagnosis, prognosis, and monitoring of AML.8Established international organizations recommend definitive timepoints for monitoring NPM1 in AML patients.9,10 Current testing options for NPM1 monitoring for AML patients are complicated, expensive, and time consuming. Due to the lack of International Standards for quantitation of the NPM1 mutation transcript for AML, laboratories are dependent on ratios and must run laborious standard curves. The Solution Xpert ® NPM1 Mutation is an automated test for quantifying the amount of mutant NPM1 mRNA transcripts (types A, B, and D in exon 12) as a ratio of NPM1 Mutation/ABL1.