GTR Home > Tests > Axenfeld-Rieger syndrome

Overview

Test name

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Axenfeld-Rieger syndrome

Purpose of the test

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Contribute to generalizable knowledge

Condition

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6 conditions tested. Click Condition tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
RT-qPCR
SMutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

2 genes and variants. Click Methodology tab for more information.

Genes

Description of study

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Screening of DNA samples from human subjects for intragenic mutations and deletions of PITX2 and FOXC1. Additional screening is performed through whole exome sequencing. Referring providers will be notified if a mutation is detected.

Researchers

Person responsible for the studyHelpElena Semina, PhD, Lab Director
Study contactHelpLinda Reis, MS, CGC, Genetic Counselor, lreis@mcw.edu, 414-955-7645 (phone), 414-955-6329 (fax)

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