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New test streamlines testing for Huntington's

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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

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Hopefully that'll help streamline them into MMP's if they so choose.

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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.

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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?

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Is this a new thing?

Yup, new way to test, and it's has a better accuracy rate.

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"The disease is caused by an autosomal dominant mutation in either of an individual's two copies"

That's not good... :(

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