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Old 02-22-2011, 10:00 AM   #1
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Join Date: Nov 2008
Location: Canada
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Kay26 HB User
Where to get genetic testing done in New York

Hi There,

I live in Ontario and my son is currently being examined for a number of disorders, CF being one of them. His first sweat test came back as negative (24) last February when he was 21 months old.

He continues to exhibit the respiratory symptoms of CF and has recently been diagnosed as Pancreatic Insufficient by the GI doctors at our local Children's hospital. He has been on Cotazyme ECS 8 for the past 3 weeks.

We are going to the hospital for Sick Children in Toronto to be seen by both the CF clinic and the chest clinic, his paediatrician has told us that he "doesn't have CF because of the negative sweat test, but has something that is mimicing CF". While they continue to look (ever so slowly) for the cause of his problems, my husband and I would like to have him genetically tested. We're nervous that something is being missed, and as we approach his 3rd birthday we're getting nowhere, he's getting sicker and we're running out of patience.

Like I mentioned, we live in Ontario but live within 45 minutes of the Buffalo border. We would like to initiate genetic testing ourselves (and have a few other things examined if we could). But we don't know where to even start looking for a lab in New York that can run these types of genetic tests. All new to us.

If anyone has any information on how we should proceed, or what our first steps should be, it would be greatly appreciated.

Thanks in advance,

Kay

 
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Old 02-23-2011, 08:04 AM   #2
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Join Date: Nov 2003
Location: Midwest
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Ratatosk HB UserRatatosk HB User
Re: Where to get genetic testing done in New York

Any clinic can take blood for you and have it sent to the major companies who do genetic testing. Ambry is one of the biggies and they're located in California. Quest also tests for over 1500 mutations along with deletions, etc. And then the Mayo Clinic has a test as well though they have their basic test of the most common mutatations and based on those results will consider testing for more.

IMO would see about contacting Ambry and see what they suggest.

 
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