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The Shiley Eye Center is proud to announce
a new state-of-the-art testing facility that we will be providing
service to starting in April 2008.
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 will provide testing of genes
causing the diseases listed below.
Retinal Dystrophy Phenotypes:
Gene
ABCA4
Bestrophin
CEP290
CNGA1
CRB1
CTRP5
EFEMP1
ELOVL4
MERTK
PDE6A
PDE6B
RDS
RGR
Rhodopsin
RLBP1
RPE65
TIMP3
TULP1
Related
Eye Disease
Stargardt's
macular degeneration
Best's macular degeneration
Leber congenital amaurosis
Recessive RP and other early onset retinal diseases
Recessive RP and other early onset retinal diseases
Recessive RP and other early onset retinal diseases
Malattia Leventinese /Doyne honeycomb dystrophy
Dominant Stargardt’s-like macular degeneration
Recessive RP and other early onset retinal diseases
Recessive RP and other early onset retinal diseases
Recessive RP and other early onset retinal diseases
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
Recessive RP and other early onset retinal diseases
Recessive RP and other early onset retinal diseases
Recessive RP and other early onset retinal diseases
Recessive RP and other early onset retinal diseases
Sorsby’s fundus dystrophy
Recessive RP and other early onset retinal diseases
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:
•
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:
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
For
Additional Information, Contact:
eyeDNAtest@ucsd.edu
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