GTR Home > Tests > Peters Anomaly


Test name


Peters Anomaly

Purpose of the test


Contribute to generalizable knowledge



1 condition tested. Click Condition tab for more information.


Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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


Description of study


Screening of DNA samples for mutations in PITX2, FOXE3, CYP1B1, and B3GALTL will be completed through Sanger sequencing. If no mutation is found, screening of other developmental ocular genes will be performed through whole exome sequencing. Data will be reviewed for novel gene identification and we will continue to screen samples for mutations in other genes characterized as research progresses. 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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