Friday, February 6, 2009

SMA Testing

Press Release Jan 26, 2009
Athena Diagnostics Offers Genetic Test for Diagnosing Spinal Muscular Atrophy

SMA Now Second Leading Cause of Infant Death

WORCESTER, Mass. (January 26, 2009) — Athena Diagnostics, part of Thermo Fisher Scientific, offers a comprehensive test to identify carriers and diagnose prenatal cases of spinal muscular atrophy (SMA), a disease that causes the degeneration of lower motor neurons and is the second leading cause of death among infants. With this advanced testing and diagnostic capability, physicians can screen couples who are planning to start a family, or who are already pregnant, for mutation in the recessive SMN1 gene, a genetic variation that will ultimately determine if their infant will be born with SMA.

SMA ranks as the second most prevalent hereditary disease in the world, after cystic fibrosis, and the American College of Medical Genetics (ACMG) recommends that all couples should be offered testing for SMA mutations before starting a family. Currently, one in about every 50 adults, or approximately 7.5 million people, is a carrier of SMN1 abnormal mutations, and, as a result, one in 6,000 infants are born with the genetic disease every year.

Basic carrier and prenatal testing only allow physicians to screen for the presence of an abnormal SMN1 gene. Athena Diagnostics offers comprehensive SMA testing that enables physicians to
take patients through the initial carrier testing, which screens for the presence of SMN1mutations and SMN2 gene copy number count. This insight into the development and copy number of an SMN2 gene in the infant allows physicians to predict the progression of the disease and create a treatment plan before the infant is even born. “Infants who are tested for the SMN2 copy number present in their genetic makeup will allow physicians to be more knowledgeable about the prognosis of the disease,” said Dr. Thomas Prior, PhD, Ohio State University. “In the future, this may allow physicians time to develop a personalized patient plan and start implementing a preliminary treatment strategy. Early diagnosis is so critical, and the Athena Diagnostics test gives doctors that precious extra time to understand the early stages of a disease that affects more families than most Americans realize."

"My husband and I lost our daughter, Claire, to SMA at the age of nine months,” said Deborah Heine, executive director of the Claire Altman Heine Foundation, a nonprofit organization dedicated to the implementation of pan-ethnic SMA carrier screening. “We were never offered the SMA carrier screen despite the fact that a test has existed since 1997. No one should have to discover their carrier status by having their child diagnosed with this devastating disease. It is our desire that all individuals of childbearing age should be offered SMA carrier screening so that they can make informed reproductive decisions."

To learn more about the Athena Diagnostics SMA test, please visit:

For our more science-minded friends, here are a couple of other articles if you are interested:
The Genetics of SMA
Carrier Screening for SMA


Murphy's Law said...

Rita, thanks for posting this. This place is about 30 minutes from me and I didn't know it was one of the ones that would be offering the carrier testing that Claire worked so hard to get. I think I'm going to post this in my blog too.

Deborah said...

Thanks so much for talking about carrier screening for SMA. Just like you, this cause is near and dear to my heart! Also, I started a "cause" on facebook, please join!
All the best - Deb Heine

Deborah said...

Forgot, please visit our website,, for more information about carrier screening for SMA - thanks again - deb