Detecting digeorge syndrome mutations

Details Detecting digeorge syndrome mutations Detecting digeorge syndrome mutations

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C07H 21/04 (2006.01) C12P 19/34 (2006.01)

Patent

CA 2120336

There is provided by this invention methods of detecting genetic deletions and mutations associated with at least one condition selected from the group consisting of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate in a human patient comprising the steps of providing a DNA containing test sample from said human patient; identifying whether there are less than two functional copies of the DiGeorge syndrome critical region loci, whereby said identification of less than two copies of the DiGeorge syndrome critical region loci is indicative of a likelihood that said person has at least one of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate. Probes and primers useful in the invention are also provided as are diagnostic kits.

Affiliated with

Also associated with

Rating

Detecting digeorge syndrome mutations does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Detecting digeorge syndrome mutations, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Detecting digeorge syndrome mutations will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFCA-PAI-O-2065969