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"The only thing that all of the people with APS Type 1 have in common is the will to survive" -- Pablo Ramírez

 
September 2010
 
 
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DNA testing for defective genes

My nephew has APS Type 1 and my family has been involved in raising money for NORD in order to facilitate research into this disease. Since my nephew has the disease I understand that my sister has the defective gene and there is a one in four chance that I too carry this gene. Is there a genetics test to see if I have the defective gene so that I can assure my daughter who just had her first baby that she does not need to fear APS type 1 affecting her baby? I have a biology degree from SUNY Stony Brook so please do not feel that you have to simplify your responce for me.

DNA Testing

Posted by dr at Feb 18, 2008 04:57 PM
You are correct when you speak of your genetic risk. Your chances of passing a defective AIRE gene to your daughter (assuming that you were a carrier) would be only 50% or 1:8 random chance that your daughter could be a carrier. Since APS-1 is recessive, she would need to have married another carrier (a remote chance indeed since APS-1 only occurs in every 1-2 million in the US population. however if you wanted to leave nothing to chance, the AIRE gene mutations can be identified (or not) from a peripheral blood sample sent to Athena laboratories in Boston. The cost is about 500.00+ to you and Athena would bill your insurance for the remainder. Likely your insurance would deny coverage but you would not be more financially liable. You may want to call them directly to be clear with them directly about charges.
Kind regards,
Noel Maclaren MD