Progenity DNA Testing Results

On the ride home tonight, Dean received a call on his cell phone from a Richmond, VA number. Normally, we would not answer a call from an unknown number, but in this case he figured he would answer it in the off chance it was them.

It was!

There are still a few results pending for some of the more rare diseases (ranging in odds of 1:30,000 and 1: 1,000,000) but what we know so far is – we are not carriers for any of the major diseases. HOWEVER. We both did test positive for a disorder called hemochromatosis. If you’re thinking that this disorder sounds like something from a House episode, that was my reaction too.  The short explanation, is that this disorder causes an excess of iron to be stored in the blood. It is not at all serious and is 100% treatable. That’s the important information, but I will elaborate about what the disorder is below.

Dean and I both happen to carry an inactive copy of the HFE gene that causes this disorder. For any child that we have, they will have a 1 in 4 chance of inheriting a copy of this abnormal gene. If our child happens to inherit both copies of the gene, there’s still only a 25% chance that they would ever become symptomatic. This disorder does not impact fetal development in any way, shape or form. In fact, the symptoms of this condition generally appear when you are 50-60 years of age. For women, the symptoms begin as soon as their menstrual period stops, like in menopause or in pregnancy. It makes sense, a period is rich with iron, and if you are expelling that on a monthly basis you will have more normal iron levels in your blood stream.

The treatment for this disorder is both eating a diet that is low in iron and having your blood drawn on a monthly basis. Much of the body’s iron is contained in red blood cells, so this treatment effectively helps to lower iron levels.

So the worst case scenario here is that when our child reaches their 50’s and 60’s they may need to have their blood drawn monthly if they get both copies of the gene.  The Progenity counselor advised that they wouldn’t even bother putting a child through a blood test for this disorder and out of all the things on the list to be positive for, this is as good as it can get. In fact, 12% of Caucasians have a copy of this gene, and it is considered to be very common.

For more information, feel free to read about it on Mayo Clinic: