Molecular Diagnostic Testing for Inherited Eye Disease
Kellogg Eye Center
1000 Wall Street
Ann Arbor, MI 48105
734-647-6347
The UM Kellogg Eye Center is proud to announce a state-of-the-art testing service: the Ophthalmic Molecular Diagnostic Laboratory. It will allow ophthalmologists to confirm diagnoses and help patients understand their risks for certain inherited eye diseases. Kellogg is unique in its ability to offer this genetic testing service, which also provides patients with an exceptional genetic counseling program.
Under the leadership of Radha Ayyagari, Ph.D., the new Ophthalmic Molecular Diagnostic Laboratory will provide testing of genes causing the diseases listed below.
Retinal Dystrophy Phenotypes
| Gene | Related eye disease |
| ABCA4 | Stargardt’s macular degeneration |
| Bestrophin | Best’s macular degeneration |
| CEP290 | Leber congenital amaurosis |
| CNGA1 | Recessive RP and other early onset retinal diseases |
| CRB1 | Recessive RP and other early onset retinal diseases |
| CTRP5 | Recessive RP and other early onset retinal diseases |
| EFEMP1 | Malattia Leventinese /Doyne honeycomb dystrophy |
| ELOVL4 | Dominant Stargardt’s-like macular degeneration |
| MERTK | Recessive RP and other early onset retinal diseases |
| PDE6A | Recessive RP and other early onset retinal diseases |
| PDE6B | Recessive RP and other early onset retinal diseases |
| RDS |
Pattern dystrophy |
| Butterfly macular dystrophy | |
| Adult-onset foveomacular dystrophy | |
| Bull’s eye maculopathy | |
| Adult-onset Best’s disease | |
| Late-onset dominant macular degeneration | |
| Additional RDS phenotypes | |
| RGR | Recessive RP and other early onset retinal diseases |
| Rhodopsin | Recessive RP and other early onset retinal diseases |
| RLBP1 | Recessive RP and other early onset retinal diseases |
| RPE65 | Recessive RP and other early onset retinal diseases |
| TIMP3 | Sorsby’s fundus dystrophy |
| TULP1 | Recessive RP and other early onset retinal diseases |
Corneal Dystrophy Phenotypes
| Gene | Related eye disease |
| BigH3 |
Please let us know if you are interested in a gene that is not on this list.
Indications for molecular diagnostic testing
- Clinical diagnosis for patients with signs and symptoms of disease.
- Pre-symptomatic testing for individuals who do not have the disease but, given family history, are at risk for the disease.
- Carrier testing for individuals who may carry a gene mutation that can be passed on to children.
Comprehensive services include:
- Certified laboratory testing (CLIA ID# 23D0964501)
- Written report of results for the patient
- On-site genetic counseling for patients both before and after testing. The pre-test session educates patients about the scope of testing and helps them set realistic expectations; the post-test session will help patients interpret results and their implications for the patient and family members.
The Ophthalmic Molecular Diagnostic laboratory accepts referrals from:
- Ophthalmologists, genetic counselors, geneticists and other health care professionals
- Patients with a designated health care provider to receive the report and discuss the results with them
Read an overview of our testing laboratory:
Molecular testing for hereditary retinal disease as part of clinical care.
Arch Ophthalmol. 2007 Feb;125(2):252-8.
See abstract at PubMed
Director
Radha Ayyagari, Ph.D.
Medical Advisory Board
John R. Heckenlively, M.D.
Paul R. Lichter, M.D.
Alan Sugar, M.D.
For additional information, contact
Phone 734-647-6347
Fax 734-936-7231
eyegenetest@med.umich.edu
