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. 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. Not all of the
materials listed in these tables have been characterized by the GeT-RM program.
Some of the listed materials have only been assayed by the submitter to the repository.
Others have been further characterized by 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*:
- Cystic Fibrosis
- Fragile X
- Fragile X Reference Materials - Characterized by GeT-RM (PDF) - All cell lines in this table have been characterized using various methods by the GeT-RM program and AMP. For more information, please refer to the following journal article: J Mol Diagn (2008) 10(1):2-12
- Fragile X materials (PDF)- None of these cell lines have been characterized by the GeT-RM program or other major characterization study.
- Huntington disease
- Pharmacogenetic loci
- 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, CYP2C9 and, CYP2C19
- Ashkenazi Jewish Panel - The Ashkenazi Jewish Panel includes the following diseases: Bloom syndrome, Canavan disease, Fanconi anemia type C, familial dysautonomia, Gaucher disease, glycogen storage disease type 1a, Mucolipidosis IV, Neimann-Pick disease, and Tay-Sachs disease.
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Reference Materials for MTHFR, SERPINA1(associated with alpha1-antitrypsin deficiency), RET(associated with Multiple Endocrine Neoplasia 2A), BRCA1, and BRCA2 (Cancer)
- MTHFR, SERPINA1, RET, and BRCA1/BRCA2 characterized by GeT-RM. All cell lines in this table have been characterized using various methods by the GeT-RM program.
- Additional genotypic information (F5, HFE, SERPINE 1, TPMT, VKORC1) about samples characterized during a GeT-RM study (data from one lab) - This is additional data obtained during the MTHFR, SERPINA1, RET, BRCA1, and BRCA2 characterization study. This data comes from only one laboratory.
- Materials developed and characterized by a previous CDC project - Includes reference materials for conditions involving nonsyndromic deafness, craniosynostosis/Muenke, hemochromatosis, MTHFR, alpha-thalassemia, factor V, prothrombin, sickle cell disease. Please refer to the following link for more information: http://www.cdc.gov/dls/genetics/tcl.aspx
Synthetic Control Materials
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