My genetic testing bloodwork was cancelled, am I wrong for thinking this was unjustified?

Our son was born with a cleft lip and palate. Due to this, his chromosones were tested to see if anything else could potentially be wrong. It came back that he is missing 12 genes from C-18 and a few of those attached on C-9. Due to this anomaly, both of us had to have our blood work taken for FISH studies testing to determine how his anomaly came about. His mother's test came back that she had a very similar anomaly, and my test was cancelled after finding her results. The same sections were missing and transposed, but they could not say definitely in the report that this was the reason for his defects. They just said it was possible. The ONLY other cleft we know about is on MY side of the family, albeit somewhat distant.

Children get 23 chromosones from each parent, to end up with a pair of each. So my son has 2 chromosone 18s that could possibly be affected. Not just one. Am I justified to be upset that we have incomplete results here? Or can someone more knowledgeable explain to me why this is acceptable? I am an Engineer. Part of my job requires me to run thermal efficiency testing on our products. If I do not consider EVERY possibility and combination, ALL of my results are invalid. I feel that our genetic test results are incomplete because some Doc at the Mayo Clinic decided (without any patient knowledge) that my test didn't need to be run.

We were supposed to be sent to a Genetic Counsellor to determine the possibility of this occuring with furthur children...which we definitely plan on having. And she has three other boys from a previous marriage without any defects.

Is this wrong of me to think this?

2012-02-23T13:04:50Z

The doctor at the test lab cancelled the test. Not the ordering doctor. I have yet to have a chance to speak with him, but that will be rectified tonight when we visit the NICU.

Anonymous2012-02-23T11:01:58Z

Did the doctor decide it wasn't necessary or did your medical insurance refuse to pay for it? Chances are it's the latter. They don't want to pay for unnecessary tests, and they probably have a rule that if one test has shown a genetic possibility, they won't pay for testing the other parent. Ask the Clinic. You may be able to have the testing done at your own expense, or you may be able to fight your insurance company on it.

This is why we need real health reform.

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?2012-02-23T10:44:32Z

Odds are you don't both have the same genetic defect, however, it would make sense to me to do your genetic testing before seeing the genetic counselor. What I would do is call the office of the genetic counselor before you appointment and let them know that the blood work was not completed. If they feel that it's necessary to have yours (which I think they will) then you will have a reason to have it repeated.

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