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Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project.
Pratt, Victoria M; Wang, Wendy Y; Boone, Erin C; Broeckel, Ulrich; Cody, Neal; Edelmann, Lisa; Gaedigk, Andrea; Lynnes, Ty C; Medeiros, Elizabeth B; Moyer, Ann M; Mitchell, Matthew W; Scott, Stuart A; Starostik, Petr; Turner, Amy; Kalman, Lisa V.
Afiliación
  • Pratt VM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Wang WY; Division of Clinical Pharmacology, Toxicology, and Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri.
  • Boone EC; Division of Clinical Pharmacology, Toxicology, and Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri.
  • Broeckel U; RPRD Diagnostics, Milwaukee, Wisconsin; Department of Pediatrics, Section on Genomic Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Cody N; Sema4, Stamford, Connecticut; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Edelmann L; Sema4, Stamford, Connecticut; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Gaedigk A; Division of Clinical Pharmacology, Toxicology, and Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.
  • Lynnes TC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Medeiros EB; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Moyer AM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Mitchell MW; Coriell Institute for Medical Research, Camden, New Jersey.
  • Scott SA; Department of Pathology, Stanford University, Stanford, California; Clinical Genomics Laboratory, Stanford Healthcare, Palo Alto, California.
  • Starostik P; Department of Pathology, Immunology, and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida.
  • Turner A; RPRD Diagnostics, Milwaukee, Wisconsin; Department of Pediatrics, Section on Genomic Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Kalman LV; Division of Laboratory Systems, Centers for Disease Control and Prevention, Atlanta, Georgia. Electronic address: ljk0@cdc.gov.
J Mol Diagn ; 24(10): 1079-1088, 2022 10.
Article en En | MEDLINE | ID: mdl-35931342
Pharmacogenetic testing is increasingly provided by clinical and research laboratories; however, only a limited number of quality control and reference materials are currently available for many of the TPMT and NUDT15 variants included in clinical tests. To address this need, the Division of Laboratory Systems, Centers for Disease Control and Prevention-based Genetic Testing Reference Material (GeT-RM) coordination program, in collaboration with members of the pharmacogenetic testing and research communities and the Coriell Institute for Medical Research, has characterized 19 DNA samples derived from Coriell cell lines. DNA samples were distributed to four volunteer testing laboratories for genotyping using a variety of commercially available and laboratory developed tests and/or Sanger sequencing. Of the 12 samples characterized for TPMT, newly identified variants include TPMT∗2, ∗6, ∗12, ∗16, ∗21, ∗24, ∗32, ∗33, and ∗40; for the 7 NUDT15 reference material samples, newly identified variants are NUDT15∗2, ∗3, ∗4, ∗5, ∗6, and ∗9. In addition, a novel haplotype, TPMT∗46, was identified in this study. Preexisting data on an additional 11 Coriell samples, as well as some supplemental testing, were used to create comprehensive reference material panels for TPMT and NUDT15. These publicly available and well-characterized materials can be used to support the quality assurance and quality control programs of clinical laboratories performing clinical pharmacogenetic testing.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Farmacogenética / Pirofosfatasas / Pruebas Genéticas / Metiltransferasas Límite: Humans Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Farmacogenética / Pirofosfatasas / Pruebas Genéticas / Metiltransferasas Límite: Humans Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos