ACMG Guidelines for Spinal Muscular Atrophy

The American College of Medical Genetics (ACMG) says "because SMA is present in all populations, carrier testing should be offered to all couples regardless of race or ethnicity. Ideally, the testing should be offered before conception or early in pregnancy. The primary goal is to allow carriers to make informed reproductive choices."

SMA carrier testing is a laboratory test done on a sample of blood. If the test shows that a couple is at high risk, more testing can be done during pregnancy to see if the baby has SMA. If you would like to be tested, ask your physician. Your physician can order a test for you through Quest Diagnostics (Athena Diagnostics) or Genzyme. I've also heard of a Universal Genetic Test through Counsyl. There are more labs that offer SMA genetic testing but those are just some that popped in my head. Your physician should be able to help guide you through the process. The Claire Altman Heine Foundation, Inc. is a great resource if you would like more information on carrier testing.