Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypes

A Han Chinese patient failed CYP2D6 genotype analysis with the AmpliChip CYP450 Test (TM). The CYP2D6 gene locus of the patient and her son were extensively genotyped including copy number variation and gene resequencing. Two SNPs were discovered on the patient's CYP2D6*1 allele, -498C>A and...

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Authors: Gaedigk, A, Garcia-Ribera, C, Jeong, HE, Shin, JG, Hernandez-Sanchez, JT
Format: article
Status:Published version
Publication Date:2014
Country:España
Institution:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repository:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p14743
Online Access:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14743
Access Level:Open access
Keyword:AmpliChip CYP450 Test (TM)
cytochrome CYP450
CYP2D6
CYP2D6*10
genotyping
pharmacogenetics
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spelling Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypesGaedigk, AGarcia-Ribera, CJeong, HEShin, JGHernandez-Sanchez, JTAmpliChip CYP450 Test (TM)cytochrome CYP450CYP2D6CYP2D6*10genotypingpharmacogeneticsA Han Chinese patient failed CYP2D6 genotype analysis with the AmpliChip CYP450 Test (TM). The CYP2D6 gene locus of the patient and her son were extensively genotyped including copy number variation and gene resequencing. Two SNPs were discovered on the patient's CYP2D6*1 allele, -498C>A and 1661G>C, while the son's CYP2D6*1 allele had -498C>A only. AmpliChip failure was attributed to the presence of a CYP2D6*1 allele carrying the 1661G>C SNP. Functional analyses of -498C>A did not reveal altered activity in vitro or in vivo suggesting that both novel CYP2D6*1 subvariants are functional. The implementation of pharmacogenetics-guided drug therapy relies on accurate clinical-grade genotype analysis. Although the AmpliChip is a reliable platform, numerous allelic (sub) variants and gene arrangements are not detected or may trigger no calls. While such cases may be rare, the clinical/genetic testing community must be aware of the challenges of CYP2D6 testing on the AmpliChip platform and implications regarding accuracy of test results.FUTURE MEDICINE LTD2014info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14743PHARMACOGENOMICSISSN: 14622416ISSNe: 17448042reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p147432026-06-14T12:41:47Z
dc.title.none.fl_str_mv Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypes
title Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypes
spellingShingle Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypes
Gaedigk, A
AmpliChip CYP450 Test (TM)
cytochrome CYP450
CYP2D6
CYP2D6*10
genotyping
pharmacogenetics
title_short Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypes
title_full Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypes
title_fullStr Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypes
title_full_unstemmed Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypes
title_sort Resolution of a clinical AmpliChip CYP450 Test (TM) no call: discovery and characterization of novel CYP2D6*1 haplotypes
dc.creator.none.fl_str_mv Gaedigk, A
Garcia-Ribera, C
Jeong, HE
Shin, JG
Hernandez-Sanchez, JT
author Gaedigk, A
author_facet Gaedigk, A
Garcia-Ribera, C
Jeong, HE
Shin, JG
Hernandez-Sanchez, JT
author_role author
author2 Garcia-Ribera, C
Jeong, HE
Shin, JG
Hernandez-Sanchez, JT
author2_role author
author
author
author
dc.subject.none.fl_str_mv AmpliChip CYP450 Test (TM)
cytochrome CYP450
CYP2D6
CYP2D6*10
genotyping
pharmacogenetics
topic AmpliChip CYP450 Test (TM)
cytochrome CYP450
CYP2D6
CYP2D6*10
genotyping
pharmacogenetics
description A Han Chinese patient failed CYP2D6 genotype analysis with the AmpliChip CYP450 Test (TM). The CYP2D6 gene locus of the patient and her son were extensively genotyped including copy number variation and gene resequencing. Two SNPs were discovered on the patient's CYP2D6*1 allele, -498C>A and 1661G>C, while the son's CYP2D6*1 allele had -498C>A only. AmpliChip failure was attributed to the presence of a CYP2D6*1 allele carrying the 1661G>C SNP. Functional analyses of -498C>A did not reveal altered activity in vitro or in vivo suggesting that both novel CYP2D6*1 subvariants are functional. The implementation of pharmacogenetics-guided drug therapy relies on accurate clinical-grade genotype analysis. Although the AmpliChip is a reliable platform, numerous allelic (sub) variants and gene arrangements are not detected or may trigger no calls. While such cases may be rare, the clinical/genetic testing community must be aware of the challenges of CYP2D6 testing on the AmpliChip platform and implications regarding accuracy of test results.
publishDate 2014
dc.date.none.fl_str_mv 2014
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14743
url https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14743
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv FUTURE MEDICINE LTD
publisher.none.fl_str_mv FUTURE MEDICINE LTD
dc.source.none.fl_str_mv PHARMACOGENOMICS
ISSN: 14622416
ISSNe: 17448042
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
collection r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
repository.name.fl_str_mv
repository.mail.fl_str_mv
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