RM Materials - Material Availability

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. This page has links to tables containing information on reference materials characterized by the GeT-RM program and a previousCDC 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 Inherited Genetic Disease Cystic Fibrosis Cystic Fibrosis ACMG 23 mutation panel - All CFTR mutations in these DNA samples have been characterized by DNA sequence analysis. Cystic Fibrosis Reference Materials Characterized by GeT-RM  - All cell lines in this table have been characterized using various methods by the GeT-RM program. Cystic Fibrosis Reference Materials Characterized by GeT-RM and Other Sources  - All cell lines in this table have been characterized using various methods by the GeT-RM program and other various sources. Cystic Fibrosis Reference Materials not Previously Characterized  - None of these cell lines have been characterized by the GeT-RM program or other major characterization study. CFTR Mutation HGVS Nomenclature  (PDF) - This table provides information of the HGVS-recommended nomenclature for CFTR mutations.  Duchenne/Becker muscular dystrophy Duchenne/Becker muscular dystrophy reference materials- Characterized by GeT-RM  (PDF) - All cell lines in this table have been characterized using various methods by the GeT-RM program. 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. Fragile X materials  (PDF)- None of these cell lines have been characterized by the GeT-RM program or other major characterization study.  Huntington disease Huntington disease materials - Characterized by GeT-RM  (PDF) - All cell lines in this table have been characterized using various methods by the GeT-RM program.  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. Ashkenazi Jewish RMs Characterized by GeT-RM  - All cell lines in this table have been characterized using various methods by the GeT-RM program. Other Ashkenazi Jewish cell lines/DNA  - None of these cell lines have been characterized by the GeT-RM program or other major characterization study.  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 Myotonic Dystrophy (DM1) characterized by GeT-RM  - All cell lines in this table have been characterized using various methods by the GeT-RM program Rett syndrome characterized by Get-RM  HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1, HLA-DPB1 characterized by Get-RM  Data on other loci F5, HFE, SERPINE 1, TPMT, VKORC1   This is additional data about the DNA characterized in the MTHFR, SERPINA1, RET, BRCA1, and BRCA2 characterization study. This data comes from only one laboratory. F5, F2, HFE, MTHFR, AAT, PAI1   This is additional data about 107 DNA samples in the pgx characterization study. Data is from only one or two (HFE) laboratories. 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.   Pharmacogenetics CYP2D6, CYP2C19, CYP2C9, VKORC1 and UGT1A1 characterized by the GeT-RM. DNA from all 107 cell lines in this table has been characterized using a variety of methods by the GeT-RM program. The assays used and alleles tested  in this study can be viewed with this link. Data is presented in the following tables for all 5 loci together and for each of the 5 loci individually: CYP2D6, CYP2C19, CYP2C9, VKORC1 and UGT1A1  CYP2D6  CYP2C19  CYP2C9  CYP2C9 and VKORC1  VKORC1  UGT1A1  CYP4F2, EPHX1, ABCB1, HLAB, KIF6, CYP3A4, CYP3A5, TPMT, DPD.   This is additional data about 107 DNA samples obtained during the GeT-RM pgx characterization study. Data is from only one laboratory. 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 Refefrence Materials NOT Previously Characterized  - None of these cell lines have been characterized by the GeT-RM program or other major characterization study.   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.