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DPYD-Multiplex 50% AF gDNA

“DPYD-Multiplex 50% AF gDNA” is highly characterized human gDNA from a proprietary cell line. Mutation status of specific genes and Whole Exome Sequencing (WES) data are freely available on request via SensID. This product contains 1 vial with DPYD mutations at 50% allele frequency.

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SKU: SID-000135 Category:

Product Description

Reference materials for Pharmacogenetics (PGx)

SensID has developed a totally platform agnostic control for dihydropyrimidine dehydrogenase (DPYD; DHP; DPD; DHPDHASE) testing. The implemented variants were selected based on publications and suggestions of various working groups and key opinion leaders who support the implementation of DPYD testing. Authorities like EMA and NHS are recommending that all patients have to be tested for DPYD deficiency prior to systemic therapy with the FU-containing drugs 5-fluorouracil (5-FU), Capecitabine, Tegafur and Flucytosine. This product consist of 1 vial of gDNA at 50% allele frequency for below specified mutations with a highly characterized genomic background. Mutations in this gene result in DPYD deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy.

Therapeutic indications where DPYD mutation status is relevant:

  • colorectal cancer
  • gastric cancer, pancreatic cancer, oesophageal cancer
  • breast cancer
  • squamous cell carcinoma of the head and neck
  • biliary tract cancers
  • Non–small-cell lung cancer (NSCLC)
  • Systemic yeast and fungal infections due to sensitive organisms

This product is ideal for Next Generation Sequencing (NGS) workflows. In particular:
– Validation and development of sequencing protocols (e.g. Whole Genome Sequencing (WES), Amplicon Sequencing) and PCR protocols
– Calibration and development of instruments and workflows in DNA processing (e.g. DNA fragmentation via acoustic shearing, enzymatic digestion or sonication)
– Analyze the performance of your NGS pipeline by comparing to freely available datasets

Unit Size: 1000 ng per vial (1 vial in total)

Concentration: 10 ng/µl

Included mutations (ddPCR validated):

DPYD-Multiplex gDNA Mutation Overview
rs number HGVS Nomenclature Amino acid change Allele frequency
EMA recommended
rs56038477 (HapB3) c.1236G>A p.Glu412= 50%
rs67376798 (Polymorphism) c.2846A>T p.Asp949Val 50%
rs55886062 (*13A) c.1679T>G p.Ile560Ser 50%
rs3918290 (*2A) c.1905+1G>A Not provided 50%
Additional mutations covered:
rs75017182 (HapB3) c.1129–5923C>G Not provided 50%
rs72549309 (*7) c.295_298delTCAT p.Phe100fs 50%
rs115232898 c.557A>G p.Tyr186Cys 50%
rs56276561 (HapB3) c.483+18G>A Not provided 50%
rs1801160 (*6) c.2194G>A p.Val732Ile 50%

Further variants were investigated. See “additional mutations covered”.

Buffer: Tris-EDTA (10 mM Tris, 1 mM EDTA), pH 8,0

Storage: 2-8 °C

Expiry: stable for 24 months from date of manufacture (as supplied)

Quality control

Fragmentation size: Agarose Gel-Electrophoresis

Allelic Frequency (metrologically traceable): ddPCR

Quantification (metrologically traceable): Fluorometric dsDNA measurement (QuBit)

Technical background

Derived from: SensID proprietary cell line

Bioinformatics: Whole Exome Sequencing (WES) data available on request. Please send a Mail to info@sens-id.com.

Documents

Certificate of Analysis:

Batch Certificate

LOT 00493

other Documents:

Instructions for use

Safety Data Sheet (SDS in other languages ​​available on request. Please contact the support.)

Additional Mutations Covered

Pharmacogenetic relevant mutations covered in the wt product:

rsnumber Gene/Star Allele Call Genotype
rs1128503 ABCB1 HET T/C
rs2032582 ABCB1 MUT G/G
HET G/T
rs1045642 ABCB1 MUT C/C
rs2235015 ABCB1 WT G/G
rs2032583 ABCB1 WT T/T
rs1801253 ADRB1 HET C/G
rs1801252 ADRB1 HET A/G
rs1803274 BCHE WT G/G
rs2290228 CALU WT G/G
rs339097 CALU WT A/A
rs4680 COMT HET A/G
rs4646316 COMT HET C/T
rs1048943 CYP1A1*2 WT A/A
rs1800031 CYP1A1*3 WT T/T
rs1799814 CYP1A1*4 WT C/C
rs41279188 CYP1A1*5 WT C/C
rs5631365 CYP1A1*6 WT G/G
rs72547510 CYP1A1*7 WT  -/-
rs72547509 CYP1A1*8 WT T/T
rs41279188 CYP1A1*9 WT C/C
rs72547513 CYP1A2*11 WT C/C
rs72547511 CYP1A2*15 WT C/C
rs72547515 CYP1A2*16 WT G/G
rs2069514 CYP1A2*1C WT G/G
rs35694136 CYP1A2*1D WT T/T
rs2069526 CYP1A2*1E WT T/T
rs762551 CYP1A2*1F MUT A/A
rs12720461 CYP1A2*1K WT C/C
rs56276455 CYP1A2*3 WT G/G
rs72547516 CYP1A2*4 WT A/A
rs55889066 CYP1A2*5 WT G/G
rs28399424 CYP1A2*6 WT C/C
rs56107638 CYP1A2*7 WT G/G
rs72547517 CYP1A2*8 WT G/G
rs28399447 CYP2A6*11 WT T/T
rs28399454 CYP2A6*17 WT G/G
rs181272 CYP2A6*2 WT T/T
none CYP2A6*20 WT AA/AA
rs4986891 CYP2A6*6 WT G/G
rs72547591 CYP2A6*7 WT T/T
rs28399433 CYP2A6*9 WT T/T
rs35303484 CYP2B6*11 WT A/A
rs36060847 CYP2B6*12 WT G/G
rs35773040 CYP2B6*14 WT G/G
rs35979566 CYP2B6*15 WT T/T
rs28399499 CYP2B6*18 WT T/T
rs8192709 CYP2B6*2 WT C/C
rs34223104 CYP2B6*22 WT T/T
rs36079186 CYP2B6*27 WT T/T
rs34097093 CYP2B6*28 WT C/C
rs2279343 CYP2B6*4 HET G/A
rs3211371 CYP2B6*5 HET C/T
rs12721655 CYP2B6*8 WT A/A
rs3745274 CYP2B6*9 WT G/G
rs6413438 CYP2C19*10 WT C/C
rs55640102 CYP2C19*12 WT A/A
rs12248560 CYP2C19*17 WT C/C
rs4244285 CYP2C19*2 HET A/G
rs4986893 CYP2C19*3 WT G/G
rs28399504 CYP2C19*4 WT A/A
rs56337013 CYP2C19*5 WT C/C
rs72552267 CYP2C19*6 WT G/G
rs72558186 CYP2C19*7 WT T/T
rs41291556 CYP2C19*8 WT T/T
rs17884712 CYP2C19*9 WT G/G
rs188934928 CYP2C8*14 WT G/G
rs11572103 CYP2C8*2 WT A/A
rs11572080 CYP2C8*3 WT G/G
rs10509681 CYP2C8*3 WT A/A
rs1058930 CYP2C8*4 WT C/C
rs72558196 CYP2C8*5 WT A/A
rs72558195 CYP2C8*7 WT C/C
rs72558195 CYP2C8*8 WT C/C
rs9332130 CYP2C9*10 WT A/A
rs28371685 CYP2C9*11 WT C/C
rs9332239 CYP2C9*12 WT C/C
rs72558187 CYP2C9*13 WT T/T
rs72558190 CYP2C9*15 WT C/C
rs72558192 CYP2C9*16 WT A/A
rs1799853 CYP2C9*2 WT C/C
none CYP2C9*25 WT AGAAATGGAA/AGAAATGGAA
rs7900194 CYP2C9*27 WT G/G
rs1057910 CYP2C9*3 WT A/A
rs56165452 CYP2C9*4 WT T/T
rs28371686 CYP2C9*5 WT C/C
rs9332131 CYP2C9*6 WT A/A
rs67807361 CYP2C9*7 WT C/C
rs7900194 CYP2C9*8 WT G/G
rs2256871 CYP2C9*9 WT A/A
rs5758550 CYP2D6 enhSNP WT A/A
rs1065852 CYP2D6*10 HET T/C
rs201377835 CYP2D6*11 WT G/G
rs5030862 CYP2D6*12 WT G/G
rs5030865 CYP2D6*14 WT G/G
rs774671100 CYP2D6*15 WT  -/-
rs28371706 CYP2D6*17 WT C/C
hCV32407220 CYP2D6*18 WT  -/-
rs72549353 CYP2D6*19 WT AACT/AACT
rs16947 CYP2D6*2 WT C/C
rs72549354 CYP2D6*20 WT  -/-
rs59421388 CYP2D6*29 WT G/G
rs35742686 CYP2D6*3 WT A/A
rs769258 CYP2D6*35 WT G/G
rs72549351 CYP2D6*38 WT GACT/GACT
rs3892097 CYP2D6*4 HET G/A
rs72549356 CYP2D6*40 WT  -/-
rs28371725 CYP2D6*41 WT G/G
rs72549346 CYP2D6*42 WT  -/-
rs72549349 CYP2D6*44 WT G/G
rs147960066 CYP2D6*56 WT C/C
rs5030655 CYP2D6*6 WT T/T
rs5030867 CYP2D6*7 WT A/A
rs5030865 CYP2D6*8 WT G/G
rs72549350 CYP2D6*9 WT AGA/AGA
rs72559710 CYP2E1*2 WT G/G
rs67784355 CYP3A4*11 WT C/C
rs12721629 CYP3A4*12 WT C/C
rs4986909 CYP3A4*13 WT C/C
rs4986907 CYP3A4*15 WT G/G
rs12721627 CYP3A4*16 WT C/C
rs4987161 CYP3A4*17 WT T/T
rs28371759 CYP3A4*18 WT T/T
rs2740574 CYP3A4*1B WT A/A
rs55785340 CYP3A4*2 WT T/T
rs35599367 CYP3A4*22 WT C/C
rs4986910 CYP3A4*3 WT T/T
rs4646438 CYP3A4*6 WT  -/-
rs28365083 CYP3A5*2 WT C/C
rs776746 CYP3A5*3 MUT G/G
rs56411402 CYP3A5*4 WT A/A
rs55965422 CYP3A5*5 WT T/T
rs10264272 CYP3A5*6 WT G/G
rs41303343 CYP3A5*7 WT  -/-
rs55817950 CYP3A5*8 WT C/C
rs28383479 CYP3A5*9 WT G/G
rs61469810 CYP3A43*2 WT A/A
rs680055 CYP3A43*3 WT C/C
rs3215983 CYP4B1*2 WT AT/AT
rs4646487 CYP4B1*6 WT C/C
rs2108622 CYP4F2*3 WT G/G
rs1060463 CYP4F11 HET G/A
rs4646 CYP19A1 MUT G/G
rs2236722 CYP19A1*2 WT T/T
rs700519 CYP19A1*4 WT C/C
rs11532898 DPYD WT A/A
rs67376798 DPYD WT A/A
rs56276561 DPYD WT G/G
rs56038477 DPYD WT G/G
rs17376848 DPYD WT T/T
rs1801268 DPYD*10 WT G/G
rs72549306 DPYD*11 WT G/G
rs80081766 DPYD*12 WT G/G
rs55886062 DPYD*13 WT T/T
rs3918290 DPYD*2A WT G/G
rs1801158 DPYD*4 WT G/G
rs1801159 DPYD*5 WT A/A
rs1801160 DPYD*6 WT G/G
rs72549309 DPYD*7 WT TCAT/TCAT
rs1801266 DPYD*8 WT C/C
rs1801265 DPYD*9A WT T/T
rs1801267 DPYD*9B WT G/G
rs4532 DRD1 HET G/A
rs1799963 F2 WT G/G
rs118203906 F5 (Cambridge) WT G/G
rs6025 F5 (Leiden) WT G/G
rs1050829 G6PD A/A-(-2) WT A/A
rs1050828 G6PD Asahi/A-(1) WT G/G
rs72554665 G6PD Canton WT G/G
rs5030869 G6PD Chatham WT G/G
rs137852339 G6PD Kalya-Kerala WT G/G
rs5030868 G6PD Mediterrianian WT C/C
rs78478128 G6PD Orissa WT C/C
rs1695 GSTP1*B WT A/A
rs1799945 HFE HET C/G
rs1800730 HFE WT A/A
rs1800562 HFE WT G/G
rs2844682 HLA-B*15:02 WT G/G
rs3909184 WT G/G
rs1061235 HLA-A*31:01 HET A/T
rs3117583 HLA-B*58:01 WT A/A
rs9469003 WT T/T
rs1801131 MTHFR HET C/A
rs1801133 MTHFR HET C/T
rs1799929 NAT2*11 WT C/C
rs1208 NAT2*12 WT A/A
rs1041983 NAT2*13 MUT T/T
rs1801279 NAT2*14 WT G/G
rs1805158 NAT2*19 WT C/C
rs1801280 NAT2*5 WT T/T
rs1799930 NAT2*6 MUT A/A
rs1799931 NAT2*7 WT G/G
rs10932125 NRP2 WT C/C
rs116855232 NUDT15*3 WT C/C
rs186364861 NUDT15*5 WT G/G
rs702764 OPRK1 WT A/A
rs1051660 OPRK1 WT G/G
rs1799971 OPRM1 WT A/A
rs6232 PCSK1 HET G/A
rs2307441 POLG WT A/A
rs3087374 POLG WT G/G
rs28931608 POR*2 WT G/G
rs786205878 POR*20 WT  -/-
rs1057868 POR*28 MUT T/T
rs12208357 SLC22A1*3 WT C/C
rs9394992 SLC29A1 HET C/T
rs760370 SLC29A1 WT A/A
rs2289669 SLC47A1 WT G/G
rs11045821 SLCO1B1 WT G/G
rs11045872 SLCO1B1 WT A/A
rs11045879 SLCO1B1 WT T/T
rs4149081 SLCO1B1 WT G/G
rs55737008 SLCO1B1*11 WT A/A
rs2306283 SLCO1B1*1B HET A/G
rs56101265 SLCO1B1*2 WT T/T
rs72559745 SLCO1B1*3/*13 WT A/A
rs56061388 SLCO1B1*3/*13 WT T/T
rs4149056 SLCO1B1*5 WT T/T
rs59502379 SLCO1B1*9 WT G/G
rs1800462 TPMT*2 WT C/C
rs1800460 TPMT*3B WT C/C
rs1142345 TPMT*3C WT T/T
rs1800584 TPMT*4 WT C/C
rs56161402 TPMT*8 WT C/C
rs35350960 UGT1A1*27 WT C/C
rs55750087 UGT1A1*29 WT C/C
rs4148323 UGT1A1*6 WT G/G
rs4124874 UGT1A1*60 WT T/T
rs34993780 UGT1A1*7 WT T/T
rs1902023 UGT2B15*2 MUT T/T
rs1801019 UMPS MUT C/C
rs8050894 VKORC1*2a HET C/G
rs9934438 VKORC1*2b HET T/C
rs9923231 VKORC1*2c HET G/A
rs2359612 VKORC1*2d HET C/T
rs7294 VKORC1*3 HET G/A
rs17708472 VKORC1*4 WT C/C
rs2228001 XPC HET C/A
hCV990000001 chr.X:g.11296922insAAGTGG FEMALE  -/-
rs3913290 chrY:g.8734477C>T FEMALE NOAMP

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