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New NIST SRM helps improve diagnosis of Huntington's disease
Date:4/14/2011

ule. On rare occasions, PCR creates extraneous CAG repeatsan anomaly known as "stutter"that make the triplet count appear higher than it really is.

Measures of the overall length of the DNA moleculeand in turn, the CAG repeat countare greatly improved when the new NIST reference, SRM 2393, "CAG Repeat Length Mutation in Huntington's Disease," is used as a quality control. The SRM consists of six samples of DNA measured and certified by NIST for triplet repeats ranging in number from 15 to 75. The certified values are free of stutter, providing genetic screeners a more viable standard with which to compare a patient's DNA sample.

SRM 2393 joins more than 50 reference materials produced by NIST for quality control in clinical testing. It also is the latest response by NIST to the call from the health care community for higher-order reference materials for genetic diagnostic tests (the last being an SRM to improve the accuracy of Fragile X syndrome diagnoses). Standard Reference Materials are among the most widely distributed and used products from NIST. The agency prepares, analyzes and distributes about 1,300 different materials that are used throughout the world to check the accuracy of instruments, validate test procedures and serve as the basis for quality control standards worldwide.


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Contact: Michael E. Newman
michael.newman@nist.gov
301-975-3025
National Institute of Standards and Technology (NIST)
Source:Eurekalert  

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