Participants can be enrolled through a referring physician/genetic counselor or can contact Linda Reis, MS, CGC, Study Coordinator, to enroll directly in person or via phone/mail.
Enrollment Packet Link (PDF)
An enrollment packet must be completed for EVERY individual who provides a sample
- A signed consent form must be included for each sample submitted with minor assent obtained for individuals ages 7-18 years.
- Note that the Medical Records Release form needs to be completed for each person, including unaffected individuals.
- Please complete an Authorization for Disclosure of Patient Health Information for ophthalmology records.
- When possible, include photographs of the affected individual’s eye(s) and facial features.
- 10 cc blood (or 1 ml/kg for children) into an EDTA (purple top) tube.
- Label tubes with patient’s name, date of birth, and date collected.
- If blood sample cannot be collected, please contact Linda Reis for information about DNA or buccal sample submission.
- Sample collection kits can be provided upon request.
Dr. Semina Lab Contact
Linda Reis, MS, CGC
(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