PCR-Fluo-ASXL1-FA: A fast, sensitive and inexpensive complementary method to detect ASXL1 mutations in haematological malignancies.
Chloé FriedrichLoria ZalmaïJuliette GayMarie Magdeleine CoudeClotilde BravettiRomain VazquezMarie TempleEugénie DuroyonLuc DarnigeJustine DecroocqAnne Sophie AlaryOlivier KosmiderPublished in: International journal of laboratory hematology (2022)
In summary, we have established a fragment analysis approach, which can detect most ASXL1 mutations, in particular the c.1934dupG, in a sensitive, fast and inexpensive manner. We therefore recommend the synchronous use of this method with NGS, to ensure complete detection of all clinically relevant ASXL1 mutations in patients suffering with myeloid neoplasms.