TY - JOUR
T1 - Characterization of Reference Materials for TPMT and NUDT15
T2 - A GeT-RM Collaborative Project
AU - Pratt, Victoria M.
AU - Wang, Wendy Y.
AU - Boone, Erin C.
AU - Broeckel, Ulrich
AU - Cody, Neal
AU - Edelmann, Lisa
AU - Gaedigk, Andrea
AU - Lynnes, Ty C.
AU - Medeiros, Elizabeth B.
AU - Moyer, Ann M.
AU - Mitchell, Matthew W.
AU - Scott, Stuart A.
AU - Starostik, Petr
AU - Turner, Amy
AU - Kalman, Lisa V.
N1 - Publisher Copyright:
© 2022 Association for Molecular Pathology and American Society for Investigative Pathology
PY - 2022/10
Y1 - 2022/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85139374747&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85139374747&partnerID=8YFLogxK
U2 - 10.1016/j.jmoldx.2022.06.008
DO - 10.1016/j.jmoldx.2022.06.008
M3 - Article
C2 - 35931342
AN - SCOPUS:85139374747
SN - 1525-1578
VL - 24
SP - 1079
EP - 1088
JO - Journal of Molecular Diagnostics
JF - Journal of Molecular Diagnostics
IS - 10
ER -