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.

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.