Update: The ophthalmic molecular diagnostic laboratory is currently accepting samples for genetic testing. (Visit our site.)
The Shiley Eye Center is proud to announce a new state-of-the-art testing facility that is providing service to patients worldwide. This facility will allow ophthalmologists to confirm diagnoses and help patients understand their risks for certain inherited eye diseases. Shiley 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 provides testing of genes causing the diseases listed below.
Retinal Dystrophy Phenotypes:
Gene
ABCA4
Bestrophin
CRB1
CRX
CTRP5
EFEMP1
ELOVL4
RDS
RHO
RPE65
TIMP3
Related
Eye Disease
Stargardt's
macular degeneration
Best's macular degeneration
Recessive RP and other early onset retinal diseases
Dominant cone-rod dystrophy
Recessive RP and other early onset retinal diseases
Malattia Leventinese /Doyne honeycomb dystrophy
Dominant Stargardt’s-like macular degeneration
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
Dominant retinitis pigmentosa
Recessive RP and other early onset retinal diseases
Sorsby’s fundus dystrophy
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.
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
Forms:
SEC Molecular Test Request Form
Medical Release Authorization Form
Informed Consent for DNA Testing
Payment Information
Research Consent Form
* We encourage all the physicians to submit parental samples if possible along with patient samples.
Frequently asked Questions:
FAQ's
Read an Overview of Our Testing:
Molecular
testing for hereditary retinal disease as part of clinical
care.
Arch Ophthalmol. 2007 Feb;125(2):252-8.
See
abstract at PubMed
Laboratory Chief:
Radha
Ayyagari, Ph.D
Visit the Ophthalmic Genetics Lab
Clinical Director:
John Thorson M.D, Ph.D
For
Additional Information, Contact:
eyeDNAtest@ucsd.edu
Harini Gudiseva M.Sc, MS, CLSp(MB)
Molecular Genetic Studies Coordinator
Room 236 Shiley Eye Center
9415 Campus Point Drive
La Jolla, CA-92037
Tel: 858-534-5362
Fax: 858-246-0568
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