1 in 40 people unknowingly carry the gene for spinal muscular atrophy. As shown in the picture to the right, when two carriers have a child, there is a 1 in 4 chance the child will be affected by SMA, a 50% chance the child will be a carrier for SMA, and a 1 in 4 chance the child will not be a carrier and not be affected. When you are a carrier for SMA, you do not show symptoms. Many people do not know they are a carrier until they have a child that is diagnosed with SMA. If SMA shows up in your family history, it is important to get tested prior to becoming pregnant.
The carrier testing for SMA is a simple saliva/blood test that can be ordered by your primary physician or obstetrician. The results take anywhere from 2-4 weeks. The links below are the labs throughout the United States that provide carrier screening. In most cases, once a form is filled out by your physician, a kit will be sent to your house in the mail. It is important to call your insurance ahead of time to see if carrier screening is covered. In some instances carrier screening is not covered by insurance, so you will have to pay out of pocket. If there is a family history of SMA, you can contact your local MDA clinic to see if they will assist in paying for carrier screen testing. Carrier testing for spinal muscular atrophy shows 98% reliability.
SMA Carrier Testing Information
Counsyl offers a "spit kit" to test for hundreds of recessive genetic disorders, including SMA. As of May, Counsyl has changed their billing to make testing more affordable. The kits will now be $99 each* to patients that have medical insurance, but their insurance will not cover genetic testing. Testing is very easy and there is no need for a doctor's appointment! Counsyl also offers a complimentary genetic counseling appointment over the phone to discuss how your results may affect future family planning. All this for a max of $99 a kit! Any other option can easily cost you hundreds of dollars and may not cover testing for multiple disorders.
Here are the steps to get tested through Counsyl**
- Go to www.counsyl.com
- Register and create an account by entering an email and password. You will be able to log into this account to get updates on your results. You will need an 8 character physician authorization code. You can call your doctor's office to get this code. If you are unable to get an 8 character code, you can email counsyl at support@counsyl.com or call (888)Counsyl to tell them your doctor's information and they will supply a code for you. If you do not have a regular physician, you can also contact Counsyl via email at support@counsyl.com to find a local physician to receive your test results. Once your results are ready in 2-3 weeks, your doctor's office will call you with your results.
- Once you are registered with your physician information and insurance information, your "spit kit" will be sent to you within 1-2 business days via FedEx.
- Once you receive your kit, you collect your saliva sample in the collection tube and can schedule FedEx to either pick it up, or you can drop the kit off at a local FedEx shop to be overnighted back to Counsyl. Shipping is already prepaid.
- Wait 2-3 weeks for results (I have heard people getting their results almost a week later). Your doctor's office is responsible for giving the results to you. Once they have notified you of the completed test results, you can schedule an appointment through the counsyl website to discuss the results in greater detail with a genetic counselor if need be.
Note: You can call your insurance company ahead of time and ask if genetic testing is covered under your plan. How do I pre-verify my insurance coverage?
Counsyl believes in universal access. Click the link to apply for financial aid if you do not have insurance and would like to get tested. Underserved groups and families with a history of genetic disease will receive priority. www.counsyl.com/order/aid/
* The cost of $99 is for those that have commercial insurance, but genetic testing is not covered. This does not include medicare/medicaid. If you do not have commercial insurance, the test costs $349. Please call/email Counsyl with questions or concerns. Please see this link for details.
**The process above may change over time. This was our personal experience going through Counsyl. Please see the Counsyl website for full details. We will try to keep this as up to date as possible.