Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the CDH1 gene.(Unpublished Mayo method)
Additionally, array comparative genomic hybridization (aCGH) is used to test for the presence of large deletions and duplications.(Aradhya S, Lewis R, Bonaga T, et al: Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. Genet Med. 2012;14[6]:594-603)
Performed weekly, Varies