Frequently Asked Questions

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  How do I enroll a patient?

For more information about enrolling in this study, please contact Linda Reis at (414) 955-7645 or

  Do I need to enroll family members?

Family participation (especially parents, even if unaffected) is encouraged as it makes interpretation of results much easier, but we will accept a patient without family members.

  What type of samples do you accept?

We prefer blood or DNA samples, but can accept buccal swabs if necessary. For blood, please provide 10 cc (or 1cc/kg in infants) in EDTA (purple top). For DNA, please provide at least 5 ug. For buccal samples, please contact us for buccal swabs.

  Where do I send the sample?

Ship sample Monday through Thursday only at room temperature via FedEx Overnight following standard procedures for shipping blood. If blood must be drawn on a Friday, please refrigerate the sample over the weekend and ship Monday morning for Tuesday delivery.

Ship blood sample and paperwork together to:

Linda Reis
Medical College of Wisconsin
Translational and Biomedical Research Center
8701 Watertown Plank Road
Milwaukee, WI 53226

  Do you pay for shipping?

Yes. Please contact us to obtain our FedEx number to cover shipping costs.

  Will I get results?

We will inform you if a causative mutation is identified. As a research lab, we are not able to issue a formal mutation report. The mutation must be confirmed in a clinical (CLIA certified) laboratory; the clinical lab will then issue a mutation report which can be included in the medical record and used for testing family members. We will work with any clinical laboratory of your choice to arrange mutation confirmation.

  How long before I get results?

The analysis is research-based and therefore is free, but results are not guaranteed. Initial results are typically available within one (1) year.

  How much does the testing cost?

The analysis is research-based and therefore is free; there are no charges associated. If you opt to obtain clinical confirmation, the charge will be determined by the laboratory you select for testing.

  What if no mutation is found?

We are working to identify other genes involved in eye disorders as well. Submitted samples will continue to be screened as new genes are identified until a mutation(s) is found (or no sample is left, whichever comes first).

  How do I share information about this study with my family members?

There are two options. You can provide your family member with the contact information for Linda Reis, study coordinator at (414) 955-7645 or or share the following invitation letter (PDF) with family members. It describes the study and provides an option for individuals to request more information about the study.

Dr. Semina Lab Contact

Linda Reis, MS, CGC
Study Coordinator
(414) 955-7645 | Fax: (414) 955-6329

Elena Semina, PhD
(414) 955-4996 | Fax: (414) 955-6329

Pediatrics Developmental Biology
Translational & Biomedical Research Center, Third Floor
Children's Research Institute
8701 Watertown Plank Road
Milwaukee, WI 53226