GTR Home > Tests > SHORT syndrome


Test name


SHORT syndrome

Purpose of the test


Contribute to generalizable knowledge



1 condition tested. Click Condition tab for more information.


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.


Description of study


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.


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

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