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RM Materials - Material Availability

The purpose of the Genetic Testing Reference Materials Coordination Program (GeT-RM) is to help the genetic testing community obtain appropriate and characterized reference materials. A short description of the GeT-RM program is provided here. This page has links to tables containing information on reference materials characterized by the GeT-RM program and a previous CDC project. These materials have been tested in several independent laboratories using a variety of test methods. New materials will be added to these tables as they are characterized.

We have also included tables listing information on available cell lines and other materials for selected disorders that have been characterized by other researchers, clinical laboratories or commercial manufacturers. Information on the characterization status of each material is shown. As the GeT-RM program proceeds, we will be updating the status of listed materials and adding information on materials available for other disorders.


Available materials for selected disorders

  • Inherited Genetic Disease
  • Pharmacogenetics
    • CYP1A1, CYP1A2, CYP2A6, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, CYP3A5, CYP4F2, DPYD, GSTM1, GSTP1, GSTT1, NAT1, NAT2, SLC15A2, SLC22A2, SLCO1B1, SLCO2B1, TPMT, UGT1A1, UGT2B7, UGT2B15, UGT2B17, VKORC1

      DNA from 137 cell lines was characterized by the GeT-RM for 28 PGx genes using a variety of methods. (J Mol Diag- in press). The assays used and alleles tested can be viewed with this link (pdf). Consensus genotype data and data by platform is presented in the following tables for all 28 loci together and for each of the 28 loci individually:

      • Consensus genotype for 28 PGx genes: CYP1A1, CYP1A2, CYP2A6, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, CYP3A5, CYP4F2, DPYD, GSTM1, GSTP1, GSTT1, NAT1, NAT2, SLC15A2, SLC22A2, SLCO1B1, SLCO2B1, TPMT, UGT1A1, UGT2B7, UGT2B15, UGT2B17, VKORC1 – 137 cell lines
      • Tables showing data from each of the platforms used to characterize each of the 28 PGx genes
    • ABCC2, ABCC4, CDA, CYP1B1, CYP2A13, CYP2F1, CYP2J2, CYP2S1, CYP3A7, CYP3A43, CYP4B1, CYP19A1, FMO2, G6PD, IFNL3, ITPA, PTGIS, SULT1A1, TBXAS1, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9, and UGT1A10
  • Additional PGx data:
    • VKORC1  - All cell lines in this table have been characterized using various methods (including sequencing and Real Time PCR) by sources other than the GeT-RM.
    • VKORC1 and CYP2C9  - All cell lines in this table have been characterized using sequencing by sources other than the GeT-RM.
    • UGT1A1  - All cell lines in this table have been characterized using various methods (including Third Wave Technologies Invader® technology and sequencing) by sources other than the GeT-RM.
    • CYP2D6  - All cell lines in this table have been characterized using various methods (including Roche AmpliChip® and Luminex Tag-It® technologies, RFLP-PCR, and various home-brew assays) by sources other than the GeT-RM.
    • CYP2C9  - All cell lines in this table have been characterized using various methods (including Luminex Tag-It® technology and Real Time PCR) by sources other than the GeT-RM.
    • CYP2C19  - All cell lines in this table have been characterized using various methods (including Roche AmpliChip® and Luminex Tag-It® technologies, RFLP and sequencing) by sources other than the GeT-RM.
    • CYP2D6 and/or CYP2C9 and/or CYP2C19
    • Reference Materials Characterized by Sources Other than the GeT-RM  - All cell lines in this table have been characterized using various methods (including Roche AmpliChip® and Luminex Tag-It® technologies, RFLP-PCR, Real Time PCR, sequencing, and various home-brew assays) by sources other than the GeT-RM
  • Biochemical Genetics

    Biochemical reference materials used in the ERNDIM (European Research Network for evaluation and improvement screening, Diagnosis and treatment of Inherited disorders of Metabolism) External Quality Assessment are available from the Control Materials section of the ERNDIM website.

  • Synthetic Controls Materials

    Synthetic Control Materials  - These synthetic control materials could be useful as reference materials (ex: NIST Fragile X SRM) or as control materials containing multiple mutations in a single source (ex: Maine Molecular, Acrometrix, and Molecular Controls materials) QC Materials for Newborn Dried Blood Spot Screening


Disclaimer:The CDC is not responsible for the validity of mutations in cell lines or any other materials. Inclusion of commercially available materials or reagents on this website does not constitute an endorsement of such materials by the CDC and no endorsement shall be stated or inferred.
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