GTR Home > Tests > Duane retraction syndrome

Overview

Test name

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Duane retraction syndrome (Duane retraction syndrome)

Purpose of the test

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Contribute to generalizable knowledge

Condition

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3 conditions tested. Click Condition tab for more information.

Methodology

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Molecular Genetics
SMutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Agilent SureSelect
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what tested

1 genes and variants, 2 chromosomal regions. Click Methodology tab for more information.

Genes and variants

Chromosomal region

  • Chromosome 8
  • Human genome

Description of study

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Laboratory is enrolling for research studies. Participation in the research study is available at no charge. This laboratory participates in the NIH-sponsored eyeGENE network. Molecular genetic testing may be available at no charge. For information contact the lab representative or visit the eyeGENE website at www.nei.nih.gov/resources/eyegene.asp

Researchers

Person responsible for the studyHelpElizabeth Engle, MD, ABPN, FAAN, Lab Director
Study contactHelpCaroline Andrews, MSc, Laboratory Contact, candrews@enders.tch.harvard.edu, 617-919-2168 (phone), 617-730-0340 (fax)

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