PAX6, SOX2, SIX6 genetic testing

[Sheila]

I'm curious to find out how many people have had genetic testing done on their children for the
PAX6, SOX2, or SIX6 genes.

If you had any of these tests done, were they done through Albert Einstein Medical Center, for research, or were they done privately through your own doctors?

If they were done privately, did your insurance cover the costs of these tests? Do you know where the tests were run? (GeneDx?)

I am also wondering how 'aware' everyone is as to what the above 3 gene tests are? Would people like more information to be "readily available" about these tests? Do you know what other conditions frequently go along with these gene mutations (such as SOX2 and seizures?) Is this information something people would like to see readily available on this
anophthalmia.org website?

If you have not been tested, could you share your reasons 'why'.

I am interested in learning as much as I can about all of this, and am considering testing for my child.

Thank you,
Sheila

[jodi]

Hi Sheila
Wyatt, my 7 yr old son w/bilateral anophthalmia and a VP shunt, has the SOX2 gene mutation. Testing done thru AEMC and GeneDX. Insurance did pick up the GeneDX fee.
Take Care,
Jodi

[angel_eyes]

We had our son tested through Albert Einstein, however, he does not have the SOX2 mutation.

[suz]

We were told to have this done on my grandson, but they are on Medicaid currently and it won't cover it.
Does anyone know of a study they can enroll in to have this testing done?

They were told not to have anymore children until this extra testing could be done.

[aprilk24]

Hi! Our son has bilat micro and had all 3 genetics tests and then some through our geneticist at the U of Minnesota. All 3 were negative. THey were done by GeneDX and insurance covered the cost. Hope that helps. Take care.

[ohbilatmicromom]

How do you get insurance to pay for testing done through geneDx and if they have the gene what does that mean? Our son was involved in the study through this website about 3 years ago, with Tayna B through Albert Einstein but we have not heard any results. We were just sent some more paperwork a few months ago and forwarded to docs. Still awaiting any results. Not that I know what they mean anyway?

[Jodi]

The geneticist who ordered the tests should be able to explain any positive results to you. Their office can also bill your insurance for the GeneDX expense. Hope this helps.