DPYD 19-Plex Set gDNA

The DPYD 19-Plex Set gDNA is a multiplex genomic DNA reference material designed to support validation, verification, and quality assessment of DPYD testing workflows. Featuring 19 clinically relevant DPYD variants at defined allele frequencies, the set provides expanded Association for Molecular Pathology (AMP) Tier 2 variant coverage and is compatible with both PCR- and NGS-based methods.

*For Research Use Only. Not Intended for Clinical or Diagnostic Use

Request Product

SKU: SID-000175

DPYD encodes dihydropyrimidine dehydrogenase (DPD), the enzyme involved in fluoropyrimidine metabolism. Reduced DPD activity can increase fluoropyrimidine exposure and elevate the risk of severe or life-threatening toxicity. Current regulatory and professional recommendations support the assessment of DPD deficiency and/or clinically relevant DPYD variants prior to certain fluoropyrimidine therapies.

The DPYD 19-Plex Set gDNA expands on the existing DPYD Multiplex Set gDNA (SID-000110). It includes all 10 variants in the original set and plus 9 additional variants, providing broader AMP Tier 2 variants. The set includes matched material at 0%, 50%, and nominal 100% allele-frequency materials to support assay verification and performance assessment.

Designed for use across platform-agnostic DPYD workflows, including PCR- and next-generation sequencing (NGS)-based methods, the set provides characterized positive and negative materials to help laboratories evaluate variant detection, allele-frequency discrimination, reproducibility, and overall workflow performance.

Product Information

Parameter	Specification
Gene	DPYD (Dihydropyrimidine Dehydrogenase)
Variant Coverage	19 clinically relevant DPYD variants
Allele Frequencies	0% (wild type) 50% (heterozygous) Nominal 100% (homozygous/variant)
Total amount	400 ng gDNA per vial (10ng/µL, 40µL); 3 vials in total
Buffer	Tris-EDTA (10 mM Tris, 1 mM EDTA), pH 8.0
Storage	2-8 °C
Expiration	24 months from date of manufacture; refer to the CoA for batch-specific information
Quality control	Allele Frequency: Digital PCR (dPCR) Fragmentation size: Electrophoresis DNA Quantification: Fluorometric dsDNA measurement
Technical Background	Derived from SensID proprietary cell line

DPYD 19-Plex gDNA Set Mutation Overview

HGVS nomenclature	rs number	Localization in Genome (GRCh38)	AA change / synonym	AMP
c.1236G>A	rs56038477	chr1:97573863	p.Glu412=; HapB3	Tier 1
c.2846A>T	rs67376798	chr1:97082391	p.Asp949Val; D949V	Tier 1
c.1129-5923C>G	rs75017182	chr1:97579893	IVS10; HapB3	Tier 1
c.1679T>G	rs55886062	chr1:97515787	p.Ile560Ser; DPYD*13	Tier 1
c.1905+1G>A	rs3918290	chr1:97450058	DPYD*2A	Tier 1
c.557A>G	rs115232898	chr1:97699474	p.Tyr186Cys; Y186C	Tier 1
c.868A>G	rs146356975	chr1:97595149	p.Lys290Glu; K290E	Tier 1
c.2279C>T	rs112766203	chr1:97305279	p.Thr760Ile; T760I	Tier 1
c.299_302del	rs72549309	chr1:97740411-97740414	p.Phe100fs; DPYD*7	Tier 2
c.703C>T	rs1801266	chr1:97691776	p.Arg235Trp; R235W; DPYD*8	Tier 2
c.1314T>G	rs186169810	chr1:97573785	p.Phe438Leu; F438L	Tier 2
c.1475C>T	rs72549304	chr1:97549609	p.Ser492Leu; S492L	Tier 2
c.1774C>T	rs59086055	chr1:97450190	p.Arg592Trp; R592W	Tier 2
c.2639G>T	rs55674432	chr1:97098616	p.Gly880Val; G880V	Tier 2
c.483+18G>A	rs56276561	chr1:97721492	–
c.61C>T	rs72549310	chr1:97883353	p.Arg21Ter; R21*
c.704G>A	rs755416212	chr1:97691775	p.Arg235Gln; R235Q
c.1024G>A	rs183385770	chr1:97593322	p.Asp342Asn; D342N
c.2043_2058del	rs773499329	chr1:97373561-97373577	p.Leu682IlefsTer24

Recommended Use of the DPYD 19-Plex Set gDNA:

This matched 0%, 50%, and nominal 100% AF set can be used as a third-party reference material throughout DPYD genotyping workflows.

The product can be used in:

1. DPYD Assay Development and Optimization

Support development and optimization of DPYD genotyping methods across PCR- and sequencing-based platforms.

2. Analytical Validation and Workflow Verification

Use defined allele-frequency materials to evaluate accuracy, precision, reproducibility, and reportable variant coverage.

3. Performance Assessment

Assess variant detection and allele-frequency discrimination across the full workflow, from DNA input through data analysis.

4. NGS and Bioinformatics Pipeline Evaluation

Evaluate variant-calling and data-analysis workflows using samples containing multiple DPYD variant classes.

5. Routine Quality Control

Use as an independent third-party control for ongoing monitoring of assay and workflow performance over time.

6. Troubleshooting

Help identify assay-, reagent-, instrument-, or analysis-related issues using characterized control materials.

7. Training and Competency Assessment

Support training of laboratory personnel and assessment of operator competency.

8. Inter-Laboratory and Lot-to-Lot Comparison

Support harmonization of results and consistency testing across sites, reagent lots, and assay components.

Need specific mutations or tailored variant allele frequencies?

We offer OEM and third-party control options customized to assay needs, including alternative variants, defined allele frequencies, and kit-integrated controls. Please contact us at sales@sens-id.com

Literature:

Pratt VM, et al. DPYD Genotyping Recommendations: A Joint Consensus Recommendation. The Journal of Molecular Diagnostics. 2024;26(10):851-863.doi.org/10.1016/j.jmoldx.2024.05.015
Wu, Angela, et al. Implementation of pharmacogenetic testing in oncology: DPYD-guided dosing to prevent fluoropyrimidine toxicity in British Columbia. Frontiers in Pharmacology 14 (2023): 1257745.doi.org/10.3389/fphar.2023.1257745
European Medicines Agency. EMA recommendations on DPD testing prior to treatment with fluorouracil, capecitabine, tegafur and flucytosine. 2020.www.ema.europa.eu/en/news/ema-recommendations-dpd-testing-prior-treatment-fluorouracil-capecitabine-tegafur-and-flucytosine
U.S. Food and Drug Administration. Safety labeling update for capecitabine and fluorouracil (5-FU) on risks associated with dihydropyrimidine dehydrogenase deficiency. 2026.www.fda.gov/drugs/resources-information-approved-drugs/safety-labeling-update-capecitabine-and-fluorouracil-5-fu-risks-associated-dihydropyrimidine

Certificate of Analysis:

Lot: 01033
Lot: 01106
Lot: 01037

Other documents:

Instructions for use

Additional Mutations Covered

Pharmacogenetic relevant mutations covered in the wild type product:

rsnumber	Gene/Star Allele	Call	Genotype
rs1128503	ABCB1	HET	T/C
rs2032582	ABCB1	MUT	G/G
rs2032582	ABCB1	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	HLA-B*15:02	WT	G/G
rs1061235	HLA-A*31:01	HET	A/T
rs3117583	HLA-B*58:01	WT	A/A
rs9469003	HLA-B*58:01	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	SLCO1B13/13	WT	A/A
rs56061388	SLCO1B13/13	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

Product Description

Product Information

Parameter	Specification
Gene	DPYD (Dihydropyrimidine Dehydrogenase)
Variant Coverage	19 clinically relevant DPYD variants
Allele Frequencies	0% (wild type) 50% (heterozygous) Nominal 100% (homozygous/variant)
Total amount	400 ng gDNA per vial (10ng/µL, 40µL); 3 vials in total
Buffer	Tris-EDTA (10 mM Tris, 1 mM EDTA), pH 8.0
Storage	2-8 °C
Expiration	24 months from date of manufacture; refer to the CoA for batch-specific information
Quality control	Allele Frequency: Digital PCR (dPCR) Fragmentation size: Electrophoresis DNA Quantification: Fluorometric dsDNA measurement
Technical Background	Derived from SensID proprietary cell line

DPYD 19-Plex gDNA Set Mutation Overview

HGVS nomenclature	rs number	Localization in Genome (GRCh38)	AA change / synonym	AMP
c.1236G>A	rs56038477	chr1:97573863	p.Glu412=; HapB3	Tier 1
c.2846A>T	rs67376798	chr1:97082391	p.Asp949Val; D949V	Tier 1
c.1129-5923C>G	rs75017182	chr1:97579893	IVS10; HapB3	Tier 1
c.1679T>G	rs55886062	chr1:97515787	p.Ile560Ser; DPYD*13	Tier 1
c.1905+1G>A	rs3918290	chr1:97450058	DPYD*2A	Tier 1
c.557A>G	rs115232898	chr1:97699474	p.Tyr186Cys; Y186C	Tier 1
c.868A>G	rs146356975	chr1:97595149	p.Lys290Glu; K290E	Tier 1
c.2279C>T	rs112766203	chr1:97305279	p.Thr760Ile; T760I	Tier 1
c.299_302del	rs72549309	chr1:97740411-97740414	p.Phe100fs; DPYD*7	Tier 2
c.703C>T	rs1801266	chr1:97691776	p.Arg235Trp; R235W; DPYD*8	Tier 2
c.1314T>G	rs186169810	chr1:97573785	p.Phe438Leu; F438L	Tier 2
c.1475C>T	rs72549304	chr1:97549609	p.Ser492Leu; S492L	Tier 2
c.1774C>T	rs59086055	chr1:97450190	p.Arg592Trp; R592W	Tier 2
c.2639G>T	rs55674432	chr1:97098616	p.Gly880Val; G880V	Tier 2
c.483+18G>A	rs56276561	chr1:97721492	–
c.61C>T	rs72549310	chr1:97883353	p.Arg21Ter; R21*
c.704G>A	rs755416212	chr1:97691775	p.Arg235Gln; R235Q
c.1024G>A	rs183385770	chr1:97593322	p.Asp342Asn; D342N
c.2043_2058del	rs773499329	chr1:97373561-97373577	p.Leu682IlefsTer24

Recommended Use of the DPYD 19-Plex Set gDNA:

This matched 0%, 50%, and nominal 100% AF set can be used as a third-party reference material throughout DPYD genotyping workflows.

The product can be used in:

1. DPYD Assay Development and Optimization

Support development and optimization of DPYD genotyping methods across PCR- and sequencing-based platforms.

2. Analytical Validation and Workflow Verification

Use defined allele-frequency materials to evaluate accuracy, precision, reproducibility, and reportable variant coverage.

3. Performance Assessment

Assess variant detection and allele-frequency discrimination across the full workflow, from DNA input through data analysis.

4. NGS and Bioinformatics Pipeline Evaluation

Evaluate variant-calling and data-analysis workflows using samples containing multiple DPYD variant classes.

5. Routine Quality Control

Use as an independent third-party control for ongoing monitoring of assay and workflow performance over time.

6. Troubleshooting

Help identify assay-, reagent-, instrument-, or analysis-related issues using characterized control materials.

7. Training and Competency Assessment

Support training of laboratory personnel and assessment of operator competency.

8. Inter-Laboratory and Lot-to-Lot Comparison

Support harmonization of results and consistency testing across sites, reagent lots, and assay components.

Need specific mutations or tailored variant allele frequencies?

We offer OEM and third-party control options customized to assay needs, including alternative variants, defined allele frequencies, and kit-integrated controls. Please contact us at sales@sens-id.com

Literature:

Pratt VM, et al. DPYD Genotyping Recommendations: A Joint Consensus Recommendation. The Journal of Molecular Diagnostics. 2024;26(10):851-863.doi.org/10.1016/j.jmoldx.2024.05.015
Wu, Angela, et al. Implementation of pharmacogenetic testing in oncology: DPYD-guided dosing to prevent fluoropyrimidine toxicity in British Columbia. Frontiers in Pharmacology 14 (2023): 1257745.doi.org/10.3389/fphar.2023.1257745
European Medicines Agency. EMA recommendations on DPD testing prior to treatment with fluorouracil, capecitabine, tegafur and flucytosine. 2020.www.ema.europa.eu/en/news/ema-recommendations-dpd-testing-prior-treatment-fluorouracil-capecitabine-tegafur-and-flucytosine
U.S. Food and Drug Administration. Safety labeling update for capecitabine and fluorouracil (5-FU) on risks associated with dihydropyrimidine dehydrogenase deficiency. 2026.www.fda.gov/drugs/resources-information-approved-drugs/safety-labeling-update-capecitabine-and-fluorouracil-5-fu-risks-associated-dihydropyrimidine

Documents

Certificate of Analysis:

Lot: 01033
Lot: 01106
Lot: 01037

Other documents:

Instructions for use

Additional Mutations Covered

Additional Mutations Covered

Pharmacogenetic relevant mutations covered in the wild type product:

rsnumber	Gene/Star Allele	Call	Genotype
rs1128503	ABCB1	HET	T/C
rs2032582	ABCB1	MUT	G/G
rs2032582	ABCB1	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	HLA-B*15:02	WT	G/G
rs1061235	HLA-A*31:01	HET	A/T
rs3117583	HLA-B*58:01	WT	A/A
rs9469003	HLA-B*58:01	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	SLCO1B13/13	WT	A/A
rs56061388	SLCO1B13/13	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

DPYD 19-Plex Set gDNA

Site Links

Products

DPYD 19-Plex Set gDNA

Site Links

Products

Cookie notice