GTR Home > Tests > Peters Anomaly

Overview

Test name

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Peters Anomaly

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
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.

Genes

Description of study

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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.

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)

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.

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