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Daily Archives: March 21, 2022

Rarity IDH1/IDH2 Panel for Acute Myeloid Leukemia

UncategorizedBy catarina@14meter.seMarch 21, 2022Leave a comment

The SuperRCA technology was first developed together with hematologists to aid in ultrasensitive detection of rare mutations in leukemic variants, such as Acute Myeloid Leukemia (AML). We are therefore happy to announce that our first version of the Rarity AML panel is now available for research service testing, covering the relevant mutations for targeted treatment…

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PanelIDH1/2 Panel
Assay NameIDH2 p.R172K
Gene Nameisocitrate dehydrogenase 2 (NADP+), mitochondrial
Gene SymbolIDH2
COSMIC IDCOSM33733
Amino Acid Changep.R172K
Nucleotide Mutationc.515G>A
dbSNPrs121913503
Targeting sequenceACCATTGGCA[G/A]GCACGCCCAT
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelIDH1/2 Panel
Assay NameIDH2 p.R140Q
Gene Nameisocitrate dehydrogenase 2 (NADP+), mitochondrial
Gene SymbolIDH2
COSMIC IDCOSM41590
Amino Acid Changep.R140Q
Nucleotide Mutationc.419G>A
dbSNPrs11540478
Targeting sequenceGGAACTATCC[G/A]GAACATCCTGGGG
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelIDH1/2 Panel
Assay NameIDH1 p.R132H
Gene Nameisocitrate dehydrogenase 1 (NADP+), soluble
Gene SymbolIDH1
COSMIC IDCOSM28746
Amino Acid Changep.R132H
Nucleotide Mutationc.395G>A
dbSNPrs121913500
Targeting sequenceATCATAGGTC[G/A]TCATGCTTAT
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelSRSF2
Assay NameSRSF2 p.P95R
Gene NameSerine and arginine rich splicing factor 2
Gene SymbolSRSF2
COSMIC IDCOSM144995
Amino Acid Changep.P95R
Nucleotide Mutationc.284C>G
dbSNPrs751713049
Targeting sequenceTACGGCCGCC[C/G]CCCGGACTCA
Sample inputGenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelSRSF2
Assay NameSRSF2 p.P95L
Gene Nameserine and arginine rich splicing factor 2
Gene SymbolSRSF2
COSMIC IDCOSM144994
Amino Acid Changep.P95L
Nucleotide Mutationc.284C>T
dbSNPrs751713049
Targeting sequenceTACGGCCGCC[C/T]CCCGGACTCA
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelSRSF2
Assay NameSRSF2 p.P95H
Gene Nameserine and arginine rich splicing factor 2
Gene SymbolSRSF2
COSMIC IDCOSM211504
Amino Acid Changep.P95H
Nucleotide Mutationc.284C>A
dbSNPrs751713049
Targeting sequenceTACGGCCGCC[C/A]CCCGGACTCA
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

Assay NameASXL1 p.G646Wfs*12
Gene NameASXL transcriptional regulator 1
Gene SymbolASXL1
COSMIC IDCOSM34210
Amino Acid Changep.G646Wfs*12
Nucleotide Mutationc.1934dup
dbSNPrs750318549
Targeting sequenceATCGGAGGGG[-/G]GGGGTGGCCC
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320g
Regulatory StatusResearch use only

PanelIDH1/2 Panel
Assay NameIDH1 p.R132C
Gene Nameisocitrate dehydrogenase 1 (NADP+), soluble
Gene SymbolIDH1
COSMIC IDCOSM28747
Amino Acid Changep.R132C
Nucleotide Mutationc.394C>T
dbSNPRS121913499
Targeting sequenceCATCATAGGT[C/T]GTCATGCTTA
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only