Hasina Posted February 13, 2013 #1 Share Posted February 13, 2013 Novel test streamlines testing for Huntington Disease A new test may help to streamline genetic testing for Huntington Disease (HD) by generating accurate results, avoiding unnecessary additional testing, and improving turnaround time. The test, which uses chimeric or triplet repeat primed PCR (TP PCR) methodology, yielded results that were 100% concordant with standard genotyping methods in an analysis of 246 samples. The high sensitivity and specificity of the test could reduce the number of false negative results and facilitate both diagnosis and prognosis by correctly sizing the genetic abnormality characteristic of HD. Huntington disease (also known as Huntington's disease or Huntington's chorea) is an inherited and progressive neurodegenerative disorder that typically becomes apparent during a person's thirties or forties. With time, HD patients develop diminished muscle coordination that is evident in walking, speaking, and swallowing and undergo changes in personality and thinking ability. A mutation in the Huntingtin gene leads to an abnormal number of repeats of a sequence of three nucleotides known as CAG. Based on the number of CAG repeats, a person may be deemed to be normal (10-35 repeats), at low risk (36-39 repeats), or at high risk (greater than 40 repeats) of having or developing HD symptoms. That is why accurately determining the number of CAG repeats is so important. Source: http://medicalxpress...on-disease.html 1 Link to comment Share on other sites More sharing options...
AsteroidX Posted February 13, 2013 #2 Share Posted February 13, 2013 Hopefully that'll help streamline them into MMP's if they so choose. Link to comment Share on other sites More sharing options...
Hasina Posted February 14, 2013 Author #3 Share Posted February 14, 2013 http://www.emaxhealth.com/1275/new-huntingtons-disease-test-offers-advantages Here’s what the investigators found: The test correctly sized 240 of the 246 samples All 100 of the normal and low-risk samples were correctly sized 140 of the 146 samples known to display Huntington’s disease were correctly sized Of the 6 remaining samples, the number of repeated sequences differed by only plus or minus one Samples that were difficult to analyze using other methods were evaluated solely and accurately using the new test The new test also has an ability to identify what is called “true homozygous normal samples,” which allows clinicians to avoid additional, expensive, and time-consuming testing. Other testing methods do not have this advantage. Link to comment Share on other sites More sharing options...
Mr.United_Nations Posted February 14, 2013 #4 Share Posted February 14, 2013 http://www.emaxhealt...fers-advantages Here’s what the investigators found: The test correctly sized 240 of the 246 samples All 100 of the normal and low-risk samples were correctly sized 140 of the 146 samples known to display Huntington’s disease were correctly sized Of the 6 remaining samples, the number of repeated sequences differed by only plus or minus one Samples that were difficult to analyze using other methods were evaluated solely and accurately using the new test The new test also has an ability to identify what is called “true homozygous normal samples,” which allows clinicians to avoid additional, expensive, and time-consuming testing. Other testing methods do not have this advantage. Is this a new thing? Link to comment Share on other sites More sharing options...
Hasina Posted February 14, 2013 Author #5 Share Posted February 14, 2013 Is this a new thing? Yup, new way to test, and it's has a better accuracy rate. Link to comment Share on other sites More sharing options...
omerta Posted February 15, 2013 #6 Share Posted February 15, 2013 "The disease is caused by an autosomal dominant mutation in either of an individual's two copies" That's not good... Link to comment Share on other sites More sharing options...
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