GTR Home > Tests > SHORT syndrome

Overview

Test name

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SHORT syndrome

Purpose of the test

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Contribute to generalizable knowledge

Condition

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1 condition 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)
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 mutations in PIK3R1, BMP4, and other genes involved in ocular development through Sanger sequencing as well as 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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