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One of the biggest challenges in chronic leukemia research is the genetic and clinical heterogeneity of the disease, which complicates the identification of effective, universally applicable treatments. This variability affects the disease's progression, treatment response and patient prognosis, necessitating a personalized approach to therapy. The development of effective treatments depends on accurately identifying and understanding the gene variants involved in the disease.
Digital PCR (dPCR) technology, known for its precision and sensitivity, is essential for detecting these genetic markers and advancing leukemia research. Our extensive portfolio of dPCR LNA Mutation Assays offers unmatched accuracy, sensitivity and reproducibility, enabling precise detection and quantification of key genetic mutations. This capability is vital for driving targeted research and developing personalized treatment approaches.
Chronic myeloid leukemia (CML) is primarily characterized by the presence of the Philadelphia chromosome, which results in the BCR-ABL fusion gene. However, CML is a heterogeneous disease, and understanding the roles of additional genetic alterations in genes such as TET2, ASXL1, RUNX1, IKZF1 and ABL1 is essential for a comprehensive understanding of its progression. These genetic insights are critical for studying disease heterogeneity, treatment resistance mechanisms and identifying potential therapeutic targets.
Our collection of assays provides a robust toolkit for advanced hematology research, facilitating precise genetic analysis and deeper insights into the complex genetic landscape of CML.
Gene | Mutation Type | Mutation (CDS) | Mutation (AA) | COSMIC ID (COSV) | COSMIC ID (COSM) | Codon | dPCR Mutation Assay |
---|---|---|---|---|---|---|---|
BRAF | Substitution - Missense | c.1406G>C | p.G469A | COSV56061424 | COSM460 | 469 | DMH0000047 |
DNMT3A | Substitution - Missense | c.2644C>T | p.R882C | COSV53036332 | COSM53042 | 882 | DMH0000150 |
DNMT3A | Substitution - Missense | c.2645G>A | p.R882H | COSV53036153 | COSM52944 | 882 | DMH0000489 |
FLT3 | Substitution - Missense | c.2503G>C | p.D835H | COSV54042636 | COSM785 | 835 | DMH0000156 |
FLT3 | Substitution - Missense | c.2503G>T | p.D835Y | COSV54042116 | COSM783 | 835 | DMH0000152 |
FLT3 | Substitution - Missense | c.2504A>T | p.D835V | COSV54042199 | COSM784 | 835 | DMH0000154 |
FLT3 | Substitution - Missense | c.2505T>A | p.D835E | COSV54045054 | COSM787 | 835 | DMH0000168 |
FLT3 | Substitution - Missense | c.2505T>G | p.D835E | COSV54044297 | COSM788 | 835 | DMH0000496 |
IDH1 | Substitution - Missense | c.394C>A | p.R132S | COSV61615649 | COSM28748 | 132 | DMH0000066 |
IDH1 | Substitution - Missense | c.394C>G | p.R132G | COSV61615456 | COSM28749 | 132 | DMH0000063 |
IDH1 | Substitution - Missense | c.394_395delinsGT | p.R132V | COSV61616571 | COSM28751 | 132 | DMH0000228 |
IDH1 | Substitution - Missense | c.395G>T | p.R132L | COSV61615420 | COSM28750 | 132 | DMH0000015 |
IDH2 | Substitution - Missense | c.419G>A | p.R140Q | COSV57468751 | COSM41590 | 140 | DMH0000018 |
IDH2 | Substitution - Missense | c.514A>G | p.R172G | COSV57468989 | COSM33731 | 172 | DMH0000282 |
IDH2 | Substitution - Missense | c.514A>T | p.R172W | COSV57468942 | COSM34039 | 172 | DMH0000056 |
IDH2 | Substitution - Missense | c.515G>A | p.R172K | COSV57468734 | COSM33733 | 172 | DMH0000064 |
IDH2 | Substitution - Missense | c.515G>T | p.R172M | COSV57468971 | COSM33732 | 172 | DMH0000016 |
IDH2 | Substitution - Missense | c.516G>T | p.R172S | COSV57468910 | COSM34090 | 172 | DMH0000301 |
JAK2 | Substitution - Missense | c.1849G>T | p.V617F | COSV67569051 | COSM12600 | 617 | DMH0000021 |
KRAS | Substitution - Missense | c.34G>A | p.G12S | COSV55497461 | COSM517 | 12 | DMH0000519 |
KRAS | Substitution - Missense | c.34G>C | p.G12R | COSV55497582 | COSM518 | 12 | DMH0000284 |
KRAS | Substitution - Missense | c.34G>T | p.G12C | COSV55497469 | COSM516 | 12 | DMH0000309 |
KRAS | Substitution - Missense | c.35G>A | p.G12D | COSV55497369 | COSM521 | 12 | DMH0000286 |
KRAS | Substitution - Missense | c.35G>C | p.G12A | COSV55497479 | COSM522 | 12 | DMH0001055 |
KRAS | Substitution - Missense | c.35G>T | p.G12V | COSV55497419 | COSM520 | 12 | DMH0000285 |
KRAS | Substitution - Missense | c.37G>A | p.G13S | COSV55509530 | COSM528 | 13 | DMH0000331 |
KRAS | Substitution - Missense | c.37G>C | p.G13R | COSV55502117 | COSM529 | 13 | DMH0000332 |
KRAS | Substitution - Missense | c.37G>T | p.G13C | COSV55497378 | COSM527 | 13 | DMH0000195 |
KRAS | Substitution - Missense | c.38G>A | p.G13D | COSV55497388 | COSM532 | 13 | DMH0000289 |
KRAS | Substitution - Missense | c.38G>C | p.G13A | COSV55497357 | COSM533 | 13 | DMH0000334 |
KRAS | Substitution - Missense | c.38G>T | p.G13V | COSV55522580 | COSM534 | 13 | DMH0000527 |
KRAS | Substitution - Missense | c.38_39delinsAT | p.G13D | COSV55508630 | COSM531 | 13 | DMH0000525 |
KRAS | Substitution - Missense | c.181C>A | p.Q61K | COSV55502066 | COSM549 | 61 | DMH0000290 |
KRAS | Substitution - Missense | c.181C>G | p.Q61E | COSV55502677 | COSM550 | 61 | DMH0000044 |
KRAS | Substitution - Missense | c.182A>C | p.Q61P | COSV55508574 | COSM551 | 61 | DMH0000022 |
KRAS | Substitution - Missense | c.182A>G | p.Q61R | COSV55498739 | COSM552 | 61 | DMH0000023 |
KRAS | Substitution - Missense | c.182A>T | p.Q61L | COSV55504296 | COSM553 | 61 | DMH0000198 |
KRAS | Substitution - Missense | c.183A>C | p.Q61H | COSV55498802 | COSM554 | 61 | DMH0000024 |
KRAS | Substitution - Missense | c.183A>T | p.Q61H | COSV55499223 | COSM555 | 61 | DMH0000025 |
NRAS | Substitution - Missense | c.34G>A | p.G12S | COSV54736621 | COSM563 | 12 | DMH0000188 |
NRAS | Substitution - Missense | c.34G>C | p.G12R | COSV54736940 | COSM561 | 12 | DMH0000336 |
NRAS | Substitution - Missense | c.34G>T | p.G12C | COSV54736487 | COSM562 | 12 | DMH0000186 |
NRAS | Substitution - Missense | c.35G>C | p.G12A | COSV54736555 | COSM565 | 12 | DMH0000339 |
NRAS | Substitution - Missense | c.35G>T | p.G12V | COSV54736974 | COSM566 | 12 | DMH0000340 |
NRAS | Substitution - Missense | c.37G>A | p.G13S | COSV54736476 | COSM571 | 13 | DMH0000510 |
NRAS | Substitution - Missense | c.37G>C | p.G13R | COSV54736550 | COSM569 | 13 | DMH0000341 |
NRAS | Substitution - Missense | c.37G>T | p.G13C | COSV54736386 | COSM570 | 13 | DMH0000342 |
NRAS | Substitution - Missense | c.38G>A | p.G13D | COSV54736416 | COSM573 | 13 | DMH0000343 |
NRAS | Substitution - Missense | c.38G>C | p.G13A | COSV54736793 | COSM575 | 13 | DMH0000345 |
NRAS | Substitution - Missense | c.38G>T | p.G13V | COSV54736480 | COSM574 | 13 | DMH0000344 |
NRAS | Substitution - Missense | c.181C>A | p.Q61K | COSV54736310 | COSM580 | 61 | DMH0000505 |
NRAS | Substitution - Missense | c.181C>G | p.Q61E | COSV54743343 | COSM581 | 61 | DMH0000347 |
NRAS | Substitution - Missense | c.182A>G | p.Q61R | COSV54736340 | COSM584 | 61 | DMH0000183 |
NRAS | Substitution - Missense | c.182A>T | p.Q61L | COSV54736624 | COSM583 | 61 | DMH0000190 |
NRAS | Substitution - Missense | c.183A>C | p.Q61H | COSV54736320 | COSM586 | 61 | DMH0000180 |
NRAS | Substitution - Missense | c.183A>T | p.Q61H | COSV54736991 | COSM585 | 61 | DMH0000349 |
TP53 | Substitution - Missense | c.517G>T | p.V173L | COSV52676535 | COSM43559 | 173 | DMH0000126 |
TP53 | Substitution - Missense | c.527G>T | p.C176F | COSV52661329 | COSM10645 | 176 | DMH0000353 |
TP53 | Substitution - Missense | c.578A>G | p.H193R | COSV52662414 | COSM10742 | 193 | DMH0000108 |
TP53 | Substitution - Missense | c.614A>G | p.Y205C | COSV52665440 | COSM43947 | 205 | DMH0000463 |
TP53 | Substitution - Missense | c.641A>G | p.H214R | COSV52670202 | COSM43687 | 214 | DMH0000470 |
TP53 | Substitution - Missense | c.659A>G | p.Y220C | COSV52661282 | COSM10758 | 220 | DMH0000440 |
TP53 | Substitution - Missense | c.713G>T | p.C238F | COSV52706816 | COSM43778 | 238 | DMH0000131 |
TP53 | Substitution - Missense | c.725G>T | p.C242F | COSV52677418 | COSM10810 | 242 | DMH0000471 |
TP53 | Substitution - Missense | c.743G>T | p.R248L | COSV52675468 | COSM6549 | 248 | DMH0000381 |
TP53 | Substitution - Missense | c.818G>A | p.R273H | COSV52660980 | COSM10660 | 273 | DMH0000094 |
TP53 | Substitution - Missense | c.818G>T | p.R273L | COSV52664805 | COSM10779 | 273 | DMH0000114 |
TP53 | Substitution - Missense | c.856G>A | p.E286K | COSV52664318 | COSM10726 | 286 | DMH0000364 |
*FDA ‘Medical Devices; Laboratory Developed Tests’ final rule, May 6, 2024 and European Union regulation requirements on ‘In-House Assays’ (Regulation (EU) 2017/746 -IVDR- Art. 5(5))
dPCR LNA Mutation Assays are intended for molecular biology applications. These products are not intended for the diagnosis, prevention, or treatment of a disease.
The QIAcuity is intended for molecular biology applications. This product is not intended for the diagnosis, prevention or treatment of a disease. Therefore, the performance characteristics of the product for clinical use (i.e., diagnostic, prognostic, therapeutic or blood banking) is unknown.
The QIAcuityDx dPCR System is intended for in vitro diagnostic use, using automated multiplex quantification dPCR technology, for the purpose of providing diagnostic information concerning pathological states.
QIAcuity and QIAcuityDx dPCR instruments are sold under license from Bio-Rad Laboratories, Inc. and exclude rights for use with pediatric applications. The QIAcuityDx medical device is currently under development and will be available in 20 countries in H2 2024.