Where to get CHD7 testing

[Guest guest]

As long as there is some discussion about the gene test, I thought I

would let you guys know about who is doing testing. Although research

testing has it's advantages (it's free), clinical testing is often

preferred for two reasons: 1) it's faster (weeks rather than many,

many months) and it may be more complete. Some of the reserahc testing

is now beign repeated to try to find mutations missed in the first few

rounds.

The most important thing is to have samples sent to a lab which is

sequencing the entire coding region. FISH or microarray techniques

will miss the vast majority of mutaitons in CHD7.

To find lab, you can to to www.genetests.org and search on CHARGE. It

is updated regularly. While you are there, check out the Review on

CHARGE syndrome. It is band new, initially posted last week! It was

written by me, Davenport, and Seema Lalani and Belmont (at

Baylor). It's written for physicians - feel free to point your dotors

to it as a resource.

Meg

Meg Hefner, MS

Genetic Counselor

St. Louis, MO

[Guest guest]

Meg,

The website you mention www.genetests.org and the review written by you,

, Seema and Belmont are very helpful and beautifully done. The

review will be a tremendous help if mentioned or brought to doctors, (and

others, too), as you suggest. I notice that Dr. a Pagon, who has been

helpful to many of us, is the founder of the site.

My favorite part? Well there are many as so much information is provided.

But my favorite part, after a rather quick reading, would be the sentence:

" Delayed motor and/or language development cannot be used to predict

cognitive potential of these individuals [Raqbi et al 2003 ; Brown 2005 ;

Hartshorne, Hefner et al 2005 ; Hefner et al 2005]. "

I think this information can be remarkably helpful for those experiencing

difficulty obtaining educational services.

Thanks to the authors cited who are researching these motor and/or language

issues.

And thank you to all of you who keep bringing forth illuminating

information. The review represents herculean efforts, over a long period of

time, to understand and bring forth important knowledge.

Where to get CHD7 testing

> As long as there is some discussion about the gene test, I thought I

> would let you guys know about who is doing testing. Although research

> testing has it's advantages (it's free), clinical testing is often

> preferred for two reasons: 1) it's faster (weeks rather than many,

> many months) and it may be more complete. Some of the reserahc testing

> is now beign repeated to try to find mutations missed in the first few

> rounds.

>

> The most important thing is to have samples sent to a lab which is

> sequencing the entire coding region. FISH or microarray techniques

> will miss the vast majority of mutaitons in CHD7.

>

> To find lab, you can to to www.genetests.org and search on CHARGE. It

> is updated regularly. While you are there, check out the Review on

> CHARGE syndrome. It is band new, initially posted last week! It was

> written by me, Davenport, and Seema Lalani and Belmont (at

> Baylor). It's written for physicians - feel free to point your dotors

> to it as a resource.

> Meg

>

> Meg Hefner, MS

> Genetic Counselor

> St. Louis, MO

>

>

>

>

>

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