Patent ID: 6303294
Filing Date: 2001-10-16
Classification: C12Q

Abstract:
A method 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 defect and cleft palate in a human patient comprising the steps of:providing a DNA containing test sample from said human patient; andidentifying whether there are less than two functional copies of the region of chromosome 22q11 from and including the locus D22S36 to the locus BCRL2;whereby said identification of less than two functional copies of said region is indicative of a likelihood that said person has a genetic deletion or mutation associated with at least one of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect and cleft palate.