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Published on: February 27, 2018
Advances in Huntington's disease diagnostics: development of a standard reference material
Barbara C Levin1, Kristy L Richie, John P Jakupciak
1National Institute of Standards & Technology, 100 Bureau Drive, Mail Stop 8311, Biochemical Science Division, Chemical Science & Technology Laboratory, Gaithersburg, MD 20899-8311, USA. barbara.levin@nist.gov
Expert Review of Molecular Diagnostics
|July 11, 2006
Summary
Huntington's disease (HD) is a genetic neurodegenerative disorder. Standardizing CAG repeat testing with reference materials ensures accurate diagnosis for at-risk individuals.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder.
- It is characterized by choreic movements, cognitive decline, and psychiatric changes, typically with onset in middle age.
- HD is caused by an expanded CAG trinucleotide repeat in the HD gene on chromosome 4.
Purpose of the Study:
- To highlight the need for standardized methodology in determining CAG repeat numbers for Huntington's disease (HD) testing.
- To emphasize the importance of accurate genetic testing for predictive and prenatal diagnosis.
- To introduce the development of a standard reference material for HD testing.
Main Methods:
- Review of current diagnostic criteria for Huntington's disease.
- Analysis of CAG trinucleotide repeat expansion in the HD gene.
- Discussion of the development of standard reference materials by the National Institute of Standards and Technology.
Main Results:
- Targeted mutational analysis for CAG repeats is highly sensitive (>99%) for diagnosing HD.
- Specific CAG repeat ranges correlate with disease presence, risk, and potential inheritance.
- A standard reference material is being developed to ensure consistent and accurate laboratory testing.
Conclusions:
- Standardization of CAG repeat determination is crucial for reliable Huntington's disease diagnosis.
- The development of a National Institute of Standards and Technology standard reference material will enhance quality control in clinical laboratories.
- Accurate and comparable testing is essential for at-risk individuals undergoing predictive or prenatal screening.
