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Package-Ref™ Lung Cancer Reference Standard Package | ||||||
Format | Genomic DNA | |||||
Description | 包含6管標(biāo)準(zhǔn)品,作為參考品、質(zhì)控品、精密度、檢測限 | |||||
Panel-Ref® gDNA Cocktail III Reference Standard | ||||||
Gene | AA Change | CDS Change | Exon | Cosmic ID | Expected AF | Chr position (GRCh37) |
EGFR | p.E746_A750delELREA | c.2235_2249del15 GGAATTAAGAGAAGC>- | 19 | COSM6223 | 5% | chr7:55242465_55242479 |
EGFR | p.L858R | c.2573T>G | 21 | COSM6224 | 5% | chr7:55259515 |
EGFR | p.T790M | c.2369C>T | 20 | COSM6240 | 5% | chr7:55249071 |
EGFR | p.G719S | c.2155G>A | 18 | COSM6252 | 5% | chr7:55241707 |
BRAF | p.V600E | c.1799T>A | 15 | COSM476 | 內(nèi)源突變 | chr7:140453136 |
KRAS | p.G12D | c.35G>A | 2 | COSM521 | 5% | chr12:25398284 |
KRAS | p.Q61H | c.183A>C | 3 | COSM554 | 內(nèi)源突變 | chr12:25380275 |
PIK3CA | p.E545K | c.1633G>A | 10 | COSM763 | 5% | chr3:178936091 |
PIK3CA | p.H1047R | c.3140A>G | 20 | COSM775 | 內(nèi)源突變 | chr3:178952085 |
EML4-ALK | E13-A20 | DNA Translocation | N/A | COSF408 | 5% | N/A |
CCDC6-RET | E1-E12 | DNA Translocation | N/A | COSF1271 | 5% | N/A |
ERBB2 | CNV | Amplication | N/A | N/A | CN=6 | N/A |
MYC | CNV | Amplication | N/A | N/A | CN=10 | N/A |
Panel-Ref® gDNA Cocktail IV Reference Standard | ||||||
Gene | AA Change | CDS Change | Exon | Cosmic ID | Expected AF | Chr position (GRCh37) |
EGFR | p.G719S | c.2155G>A | 18 | COSM6252 | 5% | chr7:55241707 |
BRAF | p.V600K | c.1798_1799GT>AA | 15 | COSV56057713 | 5% | chr7:140453136_140453137 |
PIK3CA | p.H1047R | c.3140A>G | 20 | COSM775 | 5% | chr3:178952085 |
KRAS | p.G13D | c.38G>A | 2 | COSM532 | 5% | chr12:25398281 |
NRAS | p.G12D | c.182A>G | 3 | COSM584 | 5% | chr1:115258747 |
BRCA2 | p.I2675Dfs*6 | c.8021dup | 18 | COSM2071519 | 5% | chr13:32937360 |
SLC34A2-ROS1 | E4-E32 | DNA Translocation | N/A | COSF1197 | 5% | N/A |
EML4-ALK | E6-A20 | DNA Translocation | N/A | COSF408 | 5% | N/A |
CCDC6-RET | E1-E12 | DNA Translocation | N/A | COSF1271 | 5% | N/A |
MET | Exon 14 Skippig | c.3082+1G>T | N/A | COSM6108462 | 5% | chr7:116412044 |
ERBB2 | CNV | Amplication | N/A | N/A | CN=6 | N/A |
MYC | CNV | Amplication | N/A | N/A | CN=7 | N/A |
Panel-Ref® gDNA Cocktail V Reference Standard | ||||||
Gene | AA Change | CDS Change | Exon | Cosmic ID | Expected AF | Chr position (GRCh37) |
EGFR | p.E746_A750delELREA | c.2235_2249del15 GGAATTAAGAGAAGC>- | 19 | COSM6223 | 3% | chr7:55242465_55242479 |
EGFR | p.L858R | c.2573T>G | 21 | COSM6224 | 3% | chr7:55259515 |
EGFR | p.T790M | c.2369C>T | 20 | COSM6240 | 3% | chr7:55249071 |
EGFR | p.G719S | c.2155G>A | 18 | COSM6252 | 3% | chr7:55241707 |
BRAF | p.V600E | c.1799T>A | 15 | COSM476 | 內(nèi)源突變 | chr7:140453136 |
KRAS | p.G12D | c.35G>A | 2 | COSM521 | 3% | chr12:25398284 |
KRAS | p.Q61H | c.183A>C | 3 | COSM554 | 內(nèi)源突變 | chr12:25380275 |
PIK3CA | p.E545K | c.1633G>A | 10 | COSM763 | 3% | chr3:178936091 |
PIK3CA | p.H1047R | c.3140A>G | 20 | COSM775 | 內(nèi)源突變 | chr3:178952085 |
EML4-ALK | E13-A20 | DNA Translocation | N/A | COSF408 | 3% | N/A |
CCDC6-RET | E1-E12 | DNA Translocation | N/A | COSF1271 | 3% | N/A |
ERBB2 | CNV | Amplication | N/A | N/A | CN=4 | N/A |
Panel-Ref® gDNA Cocktail VI Reference Standard | ||||||
Gene | AA Change | CDS Change | Exon | Cosmic ID | Expected AF | Chr position (GRCh37) |
BRAF | p.V600E | c.1799T>A | 15 | COSM476 | 5% | chr7:140453136 |
PIK3CA | p.H1047R | c.3140A>G | 20 | COSM775 | 5% | chr3:178952085 |
KRAS | p.G13D | c.38G>A | 2 | COSM532 | 5% | chr12:25398281 |
BRCA2 | p.I2675Dfs*6 | c.8021dup | 18 | COSM2071519 | 5% | chr13:32937360 |
Panel-Ref® gDNA Cocktail Ⅶ Reference Standard | ||||||
Gene | AA Change | CDS Change | Exon | Cosmic ID | Expected AF | Chr position (GRCh37) |
EGFR | p.E746_A750del | c.2236_2250del15 | 19 | COSM6225 | 5% | chr7:55242466_55242480 |
EGFR | p.S768I | c.2303G>T | 20 | COSM6241 | 5% | chr7:55249005 |
EGFR | p.L861Q | c.2582T>A | 21 | COSM6213 | 5% | chr7:55259524 |
MET | CNV | Amplification | N/A | N/A | CN=6 | N/A |
ERBB2 | p.A775_G776insYVMA | c.2324_2325ins12 | 20 | COSM12558 | 5% | chr17:37880996_37880997 |
KRAS | p.G12V | c.35G>T | 2 | COSM520 | 5% | chr12:25398284 |
PIK3CA | p.E542K | c.1624G>A | 10 | COSM760 | 5% | chr3:178936082 |
KRAS | p.Q61H | c.183A>C | 3 | COSM554 | 5% | chr12:25380275 |
BRAF | p.V600E | c.1799T>A | 15 | COSM476 | 內(nèi)源突變 | chr7:140453136 |
PIK3CA | p.H1047R | c.3140A>G | 20 | COSM775 | 內(nèi)源突變 | chr3:178952085 |
EGFR | p.G719C | c.2155G>T | 18 | COSM6253 | 5% | chr7:55241707 |
CD74-ROS1 | E6-E34 | DNA Translocation | N/A | COSF1200 | 5% | N/A |
NRAS | p.Q61K | c.181C>A | 3 | COSM580 | 5% | chr1:115256530 |
IDH1 | p.R132C | c.394C>T | 4 | COSM28747 | 5% | chr2:209113113 |
陰性對照 | ||||||
Mutation | 0% | |||||
Fusion | 0% | |||||
Expected %AF | CN=2 | |||||
Product Information | ||||||
Intended Use | Research Use Only | |||||
Unit Size | 1ug/vial * 6 vial | |||||
Concentration | Download for COA | |||||
Purity | Download for COA | |||||
DNA electrophoresis | Download for COA | |||||
Storage | 2-8°C | |||||
Expiry | 36 months from the date of manufacture |