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 materials
  • Cystic Fibrosis ACMG 23 mutation panel
  • Cystic Fibrosis Reference Materials Characterized by GeT-RM
  • Cystic Fibrosis Reference Materials Characterized by GeT-RM and Other Sources
  • Cystic Fibrosis Reference Materials not Previously Characterized
  • CFTR Mutation HGVS Nomenclature (PDF)
     
• Fragile X Materials
  • Fragile X Reference Materials - Characterized by GeT-RM (PDF)
  • Fragile X materials (PDF)
     
• Huntington disease materials - Characterized by GeT-RM (PDF)
   
• Pharmacogenetic loci
• VKORC1
• VKORC1 and CYP2C9
• UGT1A1
• CYP2D6
• CYP2C9
• CYP2C19
• CYP2D6 and/or CYP2C9 and/or CYP2C19
   
• Ashkenazi Jewish Panel materials (Bloom syndrome, Canavan disease, Fanconi anemia type C, familial dysautonomia, Gaucher disease, glycogen storage disease type 1a, Mucolipidosis IV, Niemann-Pick disease, Tay-Sachs disease)
  • Ashkenazi Jewish RMs Characterized by GeT-RM
  • Other Ashkenazi Jewish cell lines/DNA
     
• Materials developed and characterized by previous CDC project (nonsyndromic deafness, craniosynostosis/Muenke, cystic fibrosis, fragile X, hemochromatosis, Huntington disease, MTHFR, alpha-thalassemia, factor V, prothrombin, sickle cell)

Synthetic Reference Materials^*

• These synthetic control materials (PDF) are useful as reference materials (NIST fragile X SRM) or as control materials containing multiple mutations in a single vial (Maine Molecular, AcroMetrix and Molecular Controls).
• QC Materials for Newborn Dried Blood Spot Screening

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