SMA is the leading genetic cause of infant mortality in children under the age of two, and the second most common autosomal recessive disorder after cystic fibrosis. However, a simple, speedy blood test can tell your patients with a high degree of certainty whether they carry an abnormal mutatation on the SMN1 gene. One in every 40 to 60 adults worldwide-in all racial and ethnic populations-carries an abnormal mutatation on the SMN1 gene, causing about 1 in every 6,000 - 10,000 live births each year to result in an infant with SMA. Currently 25,000 children in the United States have SMA, and there is no cure.
Recommendations and Options
The American College of Medical Genetics (ACMG) issued new guidelines in November 2008 recommending all couples be offered carrier testing for SMA, prior to conception or early in pregnancy. Earlier guidelines only addressed couples with a family history of the disease, but these new guidelines also present couples with a broader variety of options . Athena Diagnostics has been offering testing for SMA since 1996 and offers more than 200 tests for neurological disorders.
Athena is the only commercial laboratory to offer a full continuum of testing for SMA, including carrier, prenatal, child and adult diagnostic testing with SMN2 copy number count , SMN2 analysis can offer you and your patients additional insight into the severity of the disease. SMN2, a sort of "back up" gene to SMN1, is known to be a reliable predictor of severity of disease; individuals with more 3 or more copies of SMN2 are more likely to have less severe forms of SMA. (cite: Swoboda, et al 2005, Annals of Neurology) although it is not always 100% accurate. .
Athena Diagnostics is the only commercial lab currently testing for the copy number of SMN2.
Arm your patients with information
This site is designed to help your patients learn more about the genetic testing options available to them-including carrier testing, prenatal genetic testing and diagnostic testing. New information can be empowering, and daunting; that's why we couple research and clear explanations with discussion in a community that unites patients, parents, families, and physicians.
We encourage you to explore as well. Learn more about the comprehensive range of SMA testing and genetic counseling Athena offers, as well as Athena's commitment to care, made visible through our financial assistance program for uninsured patients and Access AthenaTM, our protection plan for insured patients.
Visit the athenadiagnostics.com to learn more about testing for SMA and other genetic disorders. Or, contact Client Services for shipping kits and pre-printed requisitions.