Ambry Genetics for CF testing

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atcg's picture
Ambry Genetics for CF testing

I just heard about a company called Ambry Genetics out of Aliso Viejo, CA that tests for CF by sequencing the ENTIRE gene, rather than just using probes. The results seem very impressive, and the data could be used to further understand the gene in much more detail, rather than just the delta 508 and other common mutations associated with this disease.

RecM's picture
I use to work at Ambry, their

I use to work at Ambry, their test is more impressive than people realize at first impression. They indeed to a full gene scan including very deep into the introns, promoter, and terminator regions. They have an extensive review process so you know they double check everything they report.

Let me know if you have any questions.

Donna's picture
RecM:  You mentioned you use

RecM:  You mentioned you use to work at Ambry.  I have a question for you.  Bloodwork was submitted for CF testing on June 8th and the results are not in yet.  The last time I called they said they were in the process of doing reflex testing and it should be done in a few days.  My question is:  if they are doing reflex testing does that mean they found a CF mutation?