Need genetic dr recommendation

yogabird

Sun, Aug 13 2017, 11:12 pm

Do you mean cheek swab?

Don't know much about this but I think this is how it works, much simplified of course.

Standard testing will look for mutations in the place where it usually occurs for the set of symptoms you are seeing.

Whole exome sequencing will decode the entire genome of the person and look at every single piece of DNA for mutations that could potentially be causing the symptoms you are seeing.

amother

Cyan

Sun, Aug 13 2017, 11:23 pm

we used Dr. Deardoff at CHOP (childrens hospital of Philadelphia). They took NJ medicaid so chances are they will take NY medicaid too. There was a little wait but he was recommended and I wanted to stick with him. I would recommend him to anyone who needs a geneticist.

I think this is their number 215-590-2920

amother

Cyan

Sun, Aug 13 2017, 11:37 pm

Here is the whole team: http://www.chop.edu/centers-pr.....-team

My pediatrician recommended Dr. Deardorff.

You can call Echo and see who they recommend with your insurance. (718-859-9800)

yogabird

Mon, Aug 14 2017, 12:47 am

Whole exome sequencing is extremely expensive, not generally covered by insurance and usually used when Drs are stumped and don't know what they are like looking for. If they have a good clue, they will check the usual places first.

Never heard of a skin biopsy needed for genetic testing, unless they were testing that particular area of skin for specific mutations if timors were involved, but I don't know too much about this.

Organizations that may be able to help if doctors can't are bonei olam and dor yeshorim. I've also heard of ppl going through the NIH if they needed a mutation found for reproductive purposes.

amother

Lime

Mon, Aug 14 2017, 2:01 am

To OP- to test for Fragile -X alone is a straightforward blood test. Your pediatrcian could order it. However, your pediatrician may refer you to a geneticist to consider a variety of genetic syndromes to test all at once. Also, if it's positive, you'd be referred to the geneticist.
You are correct that your child should have genetic testing before you or anyone else in the family. The only exception might be if you will be pregnant before your child gets a genetics evaluation. Talk to your OB if that is relevant.
Regarding exome, skin biopsy or cheek swab, it's true that these are options a geneticist might consider but they can figure that out once you get there.
It's true that medicaid plans are less likely to cover certain genetic tests.
Genetic diseases can occur as the result of
1. A mutation inherited from one parent
2. Mutations inherited from both parents
3. A mutation that occured as that person was being formed
In any of these cases, the geneticist should talk about the likelihood that it could occur in other family members.
Tangentially, one reason there is a shortage of medical geneticists is that it doesn't pay as well as other specialties that require the same amount of effort.

out-of-towner

Mon, Aug 14 2017, 7:49 am

My son had a muscle biopsy, which was a surgical procedure where they took a piece of muscle from him for testing. In his case, it was part of larger surgery. I don't remember what the geneticist was trying to test for but in any case it turned out not to be relevant in his particular circumstances.