Re: Genetic testing- RESEARCH STUDY CONTACT INFO

[Guest guest]

Hi everyone-

For those of you who are interested in the Genetic Research Study..... here

is the Contact Info....

To participate in this study, your child must have some form of an abnormal

result on past Genetic Testing. I may be mistaken, but I also think that

they will test children with known Metabolic issues as well.

You can e-mail one of the Researchers..... his name is Hyung-Goo Kim. He is

a very nice man. His e-mail address is _hkim@..._

(mailto:hkim@...)

The phone number to their Lab is 706-721-7591 (FYI- there are times when

I have called and there was no answer or VM).... this # goes directly to

the Lab.

The Lab Manager's Name is Lynn Chorich- I have reached her at the above #.

Her e-mail address is:

_Lchorich@..._ (mailto:Lchorich@...)

I have noticed that sometimes, " goofs up " when people post e-mail

addresses. In case the above mentioned e-mail addresses do not come through

correctly on this post, I will also type them this way.... Hyung-Goo's

e-mail is: hkim (AT )chgr(DOT)mgh(DOT)harvard(DOT)edu

Lynn's e-mail is: Lchorich(AT)mail(DOT)mcg(DOT)edu

Simply contact Hyung-Goo.... he will e-mail all of you the forms. I DO

KNOW THAT HYUNG-GOO WILL BE ON VACATION UNTIL March 12th... so do not expect

a reply until after this date. If you want to see the forms sooner, hit

" Reply to Sender " at the bottom of this message of mine and send me an

e-mail. I will send you the forms as an attachment in my reply. (I

tried......

but I can't figure out how to add an attachment to a post on ). If

you choose to do this, you still will need to contact Hyung Goo to tell him

that you are interested.

I am very familiar with the forms.... and would be able to easily answer

any questions that any of you have. I belong to another Group and

learned of this Study there.... I have been in contact with Hyung Goo several

times with my own questions.... and now know what everything means. The

forms are very simple........ the hardest part is finding a Lab that is willing

to draw the blood and send the bill for the blood draw to the Study. I

found out that " Huge Nation-wide Labs " ... such as Lab Corp or Quest refuse to

do this. I did learn that Hospital Based Labs ARE willing to do this. The

forms were easy.... but " getting the blood drawn " in my area was another

issue... The Study People will pay for the cost of the Blood

Collection.... but it may be hard to find a Lab that will agree to bill an

Outside

Party. As I mentioned-- you will have better luck with a HOSPITAL LAB. If you

do not want to go through the PIA travel to a Hospital.... just get the

blood drawn by your " Local Lab " ..... and if they require that YOU pay for the

blood collection.... it will not be more than 15 to 20 dollars per person.

(I can explain this better to all of you if need be). The Research

Account is set up to reimburse FACILITIES.... not INDIVIDUALS..... They will

pay

for your blood draw..... but the place that you go to have blood drawn may

have issues about billing someone other than you..... (Red Tape BS).......

Another FYI for all of you..... once the blood is drawn... it needs to be

SENT..... and you may find that many of your " local labs " will refuse to

send it.... (More Red Tape BS)..... The people from the Study worked to

solve this problem..... they will send you a Pre-Paid Shipping Package.... All

you have to do is get the blood drawn, place the tubes in the Package that

was sent to you..... take it to a FedEx Office.... and it is on its way!

Shipping is pre-paid. I know-- this may sound difficult........ it really

is not.

The awesome thing about this Study is that we can learn more about our kids

FOR FREE....- ALSO- The Study will compare symptoms from child to child

with chromosome issues in the same areas to find possible causes for

Developmental Delays! EVEN BETTER-- they not only will test your child, they

will test you and your husband-- FOR FREE ! Genetic testing is often not

covered by Insurance.... this is a great way to learn more without worrying

about the cost. They will pay for the cost of the blood draws....(as

mentioned above- you may have problems finding a Lab that will bill THEM... not

YOU

for the blood draws).... (AGAIN- I can try to advise you on " how to deal

with Local Labs if needed)..... they will pay to have the blood shipped to

them..... this study will cost you nothing..... it is so worth it!

Here is " our story in summary " .... and why I feel this Study is so awesome:

As mentioned in my earlier post, we took our Son to a Neurologist for

further evaluation of his Hypotonia when he was close to age 2. Genetic

testing was ordered..... a small deletion was found. We then were referred to

the U. of Pittsburgh Dept. of Genetics.... my hubby and I were tested.... it

was found that my hubby had the same deletion. I also mentioned how they

told us that there were 16 missing genes in this deletion..... 12 of them

were not related to Cognitive or Physical delays.... the other 4 had never

been studied. One of the missing genes predisposes adults to aneurysms.....

so my hubby was ordered an Echocardiogram.... it was normal. I think it is

so awesome that we now know about a very important thing to " check my

hubby for " ...... because of the genetic testing! We will also make sure to

tell our Son about this when he is older! I of course, worry about " the 4

genes that were never studied " ...... I also wonder, as any mom does.....

" what caused my Son's delays " ? I am the type who will always seek info....

or ways to help my little almost 3 year old guy. My husband has the same

deletion.... but he never had Apraxia...... I also worry about my 5 year

old " typical " daughter...... does she have this deletion as well? Will she

be predisposed to Aneurysms as an adult? Our Insurance Company would not

cover Genetic Testing for our daughter..... it would have cost us close to

1,000.00 to have the testing done on her. I then learned about this

Study...... and I am so happy..... Huyng Goo said that he would test her as

well..... FOR FREE!

Genetic Tests become more advanced with time..... I would highly encourage

ANY of you who have had any genetic findings in tests in the past to

participate in this.... it will be worth your time!

Take care.... and again..... please feel free to contact me with any

questions. Also-- remember-- I can send you the forms.... but I will have to

do so in a direct e-mail to you. I tried to add an attachment of these

files to this post.... but it did not work with ..... (or- I was doing

something wrong)!

If you click on " Reply to Sender " at the bottom of this note, you will

be able to e-mail me directly. WOW- I am so happy that " Genetics " was

brought up..... I posted this info a while back.... and no one appeared to be

interested..... I never would have thought of bringing up the topic of this

Study again! Remember-- I MEAN IT when I said I will help you with any

questions that you have. My home phone # is listed in the DATABASE AREA of our

site. For those of you who are new to ... the Database can be found

on the Homepage of our Site.... to the far left side..... Click on

" Database " ..... then look for my name.... Please call me if you have any

questions.

I have an unlimited calling plan.... so I will call any of you back to

help you with your questions! (Talking is so much easier than typing) LOL

Goodnight all!

Hugs from-