New genetic test may improve autism diagnosis

Posted: Published on February 24th, 2013

This post was added by Dr Simmons

SALT LAKE CITY A new genetic test may lead to a more accurate diagnosis for individuals with autism spectrum disorder by looking at key genetic markers.

Geneticists say that a more accurate diagnosis leads to better treatment and support because families know more about what theyre dealing with. The new test is a product of a Utah company called Lineagan.

The test has already changed things for some Utah families. Brigitte Kracl said she questioned whether she had done something wrong to cause her sons developmental disorder. Days after a test at the Lineagan labs, she discovered her son Cameron was not actually autistic.

Her son actually has a rare genetic disorder called angelman syndrome, which seems similar to autism. Despite these similarities, the treatment and medications can be very different.

Kracl said dealing with the disorder requires patience and a focus on the positive.

You have these milestones with an infant, and every one that we would miss, it kind of broke your heart, she said. Now we know were not going to hit this milestone, so dont focus on it. Dont worry about it. Focus on what he can do.

Lineagan markets its test primarily to pediatricians who identify children likely to fit on whats called the autistic spectrum. The test costs more than $5,000, and it is covered by some insurance policies.

Some experts warn families not to put too much stock in these tests because they can have false-negatives or confusing results.

Lineagan representatives said their test has twice the accuracy of other genetic testing options, and it looks specifically at developmental disorders like autism.

Michael Paul, Lineagan, said genetic testing makes sense for autism and related conditions.

Link:
New genetic test may improve autism diagnosis

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