Samples with Multiply Confirmed Mutations
The NIGMS Human Genetic Cell Repository is collaborating with the Centers for Disease Control and Prevention's (CDC) Genetic Testing Reference Material Coordination Program (GeT-RM) to distribute reference materials to the genetics community. These reference materials contain mutations of clinical importance that have been confirmed by multiple volunteer laboratories using different testing platforms.
Samples Currently Available
- 5,10-@Methylenetetrahydrofolate Reductase
- Bloom syndrome
- Breast Cancer/Ovarian Cancer
- Canavan disease
- Cystic fibrosis
- Early Onset Breast Cancer/Pancreatic Cancer
- Familial dysautonomia
- Fanconi anemia, group C
- Fragile X-Linked Mental Retardation
- Gaucher disease
- Glycogen storage disease
- Huntington disease
- Mucolipidosis type IV
- Multiple Endocrine Neoplasia Type IIA
- Niemann-Pick type A and B
- Pharmacogenomics (CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1)
- Protease Inhibitor 1 (Alpha-1-Antitrypsin Deficiency)
- Tay-Sachs disease
The links from the disorders listed above provide data for the reference materials that are available for distribution. This includes results of the analyses from the different laboratories that confirmed the mutations, as well as the methods used by those laboratories.
The collaboration between the NIGMS Repository and the GeT-RM program to develop reference materials is an ongoing project and development of additional disorders is being planned. Disorders for which reference materials are currently being developed include: Duchenne Muscular Dystrophy.
If you would like to participate in the verification of reference materials or would like to submit samples to the Repository for this project, please contact Coriell Customer Service at ccr@coriell.org or (800) 752-3805 in the USA or (856) 757-4848 in other countries.
See NIGMS Assurance form for an explanation of appropriate use of material.
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