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Rarity Bioscience
| Panel | Lung Cancer Panel |
| Assay Name | BRAF p.V600E |
| Gene Name | B-Raf proto-oncogene, serine/threonine kinase |
| Gene Symbol | BRAF |
| COSMIC ID | COSM476 |
| Amino Acid Change | p.V600E |
| Nucleotide Mutation | c.1799T>A |
| dbSNP | rs113488022 |
| Targeting sequence | CTAGCTACAG[T/A]GAAATCTCGA |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 3300ng |
| Regulatory Status | Research use only |
| Panel | Lung Cancer Panel |
| Assay Name | EGFR p.L858R |
| Gene Name | Epidermal Growth Factor Receptor |
| Gene Symbol | EGFR |
| COSMIC ID | COSM6224 |
| Amino Acid Change | p.L858R |
| Nucleotide Mutation | c.2573T>G |
| dbSNP | rs121434568 |
| Targeting sequence | GATTTTGGGC[T/G]GGCCAAACTG |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 3300ng |
| Regulatory Status | Research use only |
| Panel | Lung Cancer Panel |
| Assay Name | EGFR p.T790M |
| Gene Name | Epidermal Growth Factor Receptor |
| Gene Symbol | EGFR |
| COSMIC ID | COSM6240 |
| Amino Acid Change | p.T790M |
| Nucleotide Mutation | c.2369C>T |
| dbSNP | rs121434569 |
| Targeting sequence | CAGCTCATCA[C/T]GCAGCTCATG |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 3300ng |
| Regulatory Status | Research use only |
| Panel | IDH1/2 Panel |
| Assay Name | IDH2 p.R172K |
| Gene Name | isocitrate dehydrogenase 2 (NADP+), mitochondrial |
| Gene Symbol | IDH2 |
| COSMIC ID | COSM33733 |
| Amino Acid Change | p.R172K |
| Nucleotide Mutation | c.515G>A |
| dbSNP | rs121913503 |
| Targeting sequence | ACCATTGGCA[G/A]GCACGCCCAT |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 1320ng |
| Regulatory Status | Research use only |
| Panel | IDH1/2 Panel |
| Assay Name | IDH2 p.R140Q |
| Gene Name | isocitrate dehydrogenase 2 (NADP+), mitochondrial |
| Gene Symbol | IDH2 |
| COSMIC ID | COSM41590 |
| Amino Acid Change | p.R140Q |
| Nucleotide Mutation | c.419G>A |
| dbSNP | rs11540478 |
| Targeting sequence | GGAACTATCC[G/A]GAACATCCTGGGG |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 1320ng |
| Regulatory Status | Research use only |
| Panel | IDH1/2 Panel |
| Assay Name | IDH1 p.R132H |
| Gene Name | isocitrate dehydrogenase 1 (NADP+), soluble |
| Gene Symbol | IDH1 |
| COSMIC ID | COSM28746 |
| Amino Acid Change | p.R132H |
| Nucleotide Mutation | c.395G>A |
| dbSNP | rs121913500 |
| Targeting sequence | ATCATAGGTC[G/A]TCATGCTTAT |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 1320ng |
| Regulatory Status | Research use only |
| Panel | SRSF2 |
| Assay Name | SRSF2 p.P95R |
| Gene Name | Serine and arginine rich splicing factor 2 |
| Gene Symbol | SRSF2 |
| COSMIC ID | COSM144995 |
| Amino Acid Change | p.P95R |
| Nucleotide Mutation | c.284C>G |
| dbSNP | rs751713049 |
| Targeting sequence | TACGGCCGCC[C/G]CCCGGACTCA |
| Sample input | Genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 1320ng |
| Regulatory Status | Research use only |
| Panel | SRSF2 |
| Assay Name | SRSF2 p.P95L |
| Gene Name | serine and arginine rich splicing factor 2 |
| Gene Symbol | SRSF2 |
| COSMIC ID | COSM144994 |
| Amino Acid Change | p.P95L |
| Nucleotide Mutation | c.284C>T |
| dbSNP | rs751713049 |
| Targeting sequence | TACGGCCGCC[C/T]CCCGGACTCA |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 1320ng |
| Regulatory Status | Research use only |
| Panel | SRSF2 |
| Assay Name | SRSF2 p.P95H |
| Gene Name | serine and arginine rich splicing factor 2 |
| Gene Symbol | SRSF2 |
| COSMIC ID | COSM211504 |
| Amino Acid Change | p.P95H |
| Nucleotide Mutation | c.284C>A |
| dbSNP | rs751713049 |
| Targeting sequence | TACGGCCGCC[C/A]CCCGGACTCA |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 1320ng |
| Regulatory Status | Research use only |
| Assay Name | ASXL1 p.G646Wfs*12 |
| Gene Name | ASXL transcriptional regulator 1 |
| Gene Symbol | ASXL1 |
| COSMIC ID | COSM34210 |
| Amino Acid Change | p.G646Wfs*12 |
| Nucleotide Mutation | c.1934dup |
| dbSNP | rs750318549 |
| Targeting sequence | ATCGGAGGGG[-/G]GGGGTGGCCC |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 1320g |
| Regulatory Status | Research use only |
| Panel | IDH1/2 Panel |
| Assay Name | IDH1 p.R132C |
| Gene Name | isocitrate dehydrogenase 1 (NADP+), soluble |
| Gene Symbol | IDH1 |
| COSMIC ID | COSM28747 |
| Amino Acid Change | p.R132C |
| Nucleotide Mutation | c.394C>T |
| dbSNP | RS121913499 |
| Targeting sequence | CATCATAGGT[C/T]GTCATGCTTA |
| Sample input | genomic DNA, ctDNA (plasma) |
| Input range | 5ng up to 1320ng |
| Regulatory Status | Research use only |
