GTR Home > Tests > Congenital Fibrosis of Extraocular Muscles Type

Overview

Test name

Help

Congenital Fibrosis of Extraocular Muscles Type (CFEOM)

Purpose of the test

Help

Contribute to generalizable knowledge

Condition

Help

9 conditions tested. Click Condition tab for more information.

Methodology

Help
Molecular Genetics
CSequence analysis 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 is tested

3 genes and variants, 4 chromosomal regions. Click Methodology tab for more information.

Genes

Chromosomal regions/Mitochondria

  • Human genome

Description of study

Help

Laboratory conducts linkage analysis at each of the three known FEOM loci and mutation analysis of KIF21A, PHOX2A and TUBB3 (the FEOM1, FEOM2 and FEOM3 disease genes). Clinical testing is available in the 'hotspot' exons of KIF21A where previous mutations have been identified. If no KIF21A mutations are identified by clinical testing, mutation screening of the remaining KIF21A exons and screening of candidate genes is available on a research basis. Laboratory is also enrolling individuals with sporadic CFEOM for candidate gene mutation screening. Participation in the research study is available at no charge. This laboratory participates in the NIH-sponsored eyeGENE network. For information, contact the lab representative or visit the eyeGENE web site at http://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)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.