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. |
Next-generation sequencing and/or Sanger sequencing is used to test for the presence of a mutation in all coding regions and intron/exon boundaries of the PRSS1, CFTR, CTRC, and SPINK1 genes. Sequencing of genomic regions encompassing select clinically relevant intronic mutations within the CFTR gene is also performed. Additionally, gene dosage analysis by multiplex ligation-dependent probe amplification (MLPA) is used to test for the presence of large deletions and duplications in the CFTR gene. Sanger sequencing is used to confirm alterations detected by next-generation sequencing when appropriate.(Unpublished Mayo method)
Performed weekly; Varies