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GTR Home > Tests > Retinal dystrophy


Test name


Retinal dystrophy

Purpose of the test


Contribute to generalizable knowledge



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Molecular Genetics
SMutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Description of study


Screening of genes known to be involved in retinal disease will be performed by exome/genome and/or Sanger sequencing. If no mutation is found, 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 DirectorElena Semina, Principal Investigator
Study contactHelpLinda Reis, MS, CGC, Genetic Counselor, lreis@mcw.edu, 414-955-7645 (phone), 414-955-6329 (fax)Linda Reis, Genetic Counselor, lreis@mcw.edu, 414-955-4965 (phone)

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