Reference Materials for Hereditary Genetic Disorders and HLA Testing

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Inherited Genetic Disease
GeT-RM/ClinGen Expert curated variant list GeT-RM partnered with ClinGen (ClinGen) to develop a publicly available list of expert curated, clinically important variants to serve as a resource for designing comprehensive validation studies and for creating in silico reference materials for clinical genomic test development and validation. (J Mol Diag 2021 23:1501-1506) ClinGen Variant Curation Expert Panels nominated 546 pathogenic and difficult to detect variants (link to table of variants) in 84 disease-associated genes (link to table of genes).

 
Ashkenazi Jewish Panel- Characterized by GeT-RM 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.

All cell lines in this table have been characterized using various methods by the GeT-RM program. (J Mol Diagn. 2009 Nov;11(6):530-6).
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. (J Mol Diag. 2009 May;11(3):186-93).
Duchenne/Becker muscular dystrophy reference materials- Characterized by GeT-RM All cell lines in this table have been characterized using various methods by the GeT-RM program. (J Mol Diag, 2011 Mar;13(2):167-74).
Fragile X Reference Materials – Characterized by GeT-RM-RM All cell lines in this table have been characterized using various methods by the GeT-RM program and AMP. (J Mol Diag. 2008 Jan; 10(1): 2–12).
HLA-A, B, C, DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, DPA1, and DPB1 characterized by Get-RM All 108 cell lines in this table have been characterized using various methods, including NGS by the GeT-RM program (J Mol Diag 2018, 20: 703-715). (106 of these cell lines were previously characterized by GeT-RM for CYP2D6, CYP2C19, CYP2C9, VKORC1 and UGT1A1. [J Mol Diag 2010 12(6):835-846]).
Huntington disease materials – Characterized by GeT-RM All cell lines in this table have been characterized using various methods by the GeT-RM program. (Genetics in Medicine 2007 9:719-723).
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. (J Mol Diag 2009 Nov;11(6):553-61).
Myotonic Dystrophy (DM1) characterized by GeT-RM All cell lines in this table have been characterized using various methods by the GeT-RM program. (J Mol Diag 2013 15:518-525).
Rett syndrome characterized by Get-RM All cell lines in this table have been characterized using various methods by the GeT-RM program. (J Mol Diag 2014 16:273-279).
Spinal Muscular Atrophy (SMA) Characterized by GeT-RM All cell lines in this table have been characterized using various methods by the GeT-RM program. (J Mol Diag 2021 23:103-110). A subscription to the journal is required to view the article until January 2022; after that it will be available to the public. 
Additional GeT-RM/CDC Data
F5-HFE-MTHFR-SERPINA1-SERPINE1-TPMT-VKORC1 These are additional data about the DNA characterized in the GeT-RM MTHFR, SERPINA1, RET, BRCA1, and BRCA2 characterization study (J Mol Diag 2009 Nov;11(6):553-61). These data come from only one laboratory.
F5, F2, HFE, MTHFR, AAT, PAI1 These are additional data about 107 DNA samples in the GeT-RM PGx characterization study (J Mol Diag 2010 12(6):835-846). Data are 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. (Clinical Chemistry 2005 51:11 2013-2024)

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