Page 2 - ASHG 2013 Program Guide

Unlocking the Secrets of DNA
One Baylor Plaza
Nab 2015
Houston, Texas 77030
713-798-6555
1-800-411-
gene (4363)
Rather than limiting testing to a single gene or panel
of genes and incurring diagnostic delays and escalating
costs, Whole Exome Sequencing examines the genome
nucleotide by nucleotide. Point mutations, small
insertions and deletions of the exome are routinely
detected by this methodology. In addition to detecting
mutations in genes associated with the patient’s
clinical presentation, significant, potentially medically
actionable findings in other genes are reported. The
tests also provides the patient with the option of
receiving a report of recessive carrier status mutations.
WHOLE EXOME SEQUENCING
ONE TEST – MORE ANSWERS