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. 
  • 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. 
  • Reference Materials Characterized by the GeT-RM for MTHFR, SERPINA1 (associated with alpha-1-antitrypsin deficiency), RET (associated with multiple endocrine neoplasia type 2A), BRCA1, and BRCA2 Mutations
    • 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 collected from the previous MTHFR, SERPINA1, RET, BRCA1, and BRCA2 characterization study. This data comes from only one laboratory and is not part of any GeT-RM study.
  • 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
• 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