GTR Home > Tests > Whole Exome Sequencing

Overview

Test name

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Whole Exome Sequencing (WES)

Purpose of the test

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Contribute to generalizable knowledge

Condition

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2 conditions tested. Click Condition tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeqâ„¢2000 system

Summary of what tested

1 chromosomal regions. Click Methodology tab for more information.

Chromosomal region

  • Whole exome

Description of study

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Identification of the genetic causes of congenital heart defects in individual cases and extended families

Researchers

Person responsible for the studyHelpKim McBride, MD, FACMG, Lab Director
Study contactHelpSara Fitzgerald-Butt, MS, CGC, Lab Director, sara.fitzgerald-butt@nationwidechildrens.org, 614-355-5798 (phone), 614-355-5725 (fax)

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