Eye Disorder Panel
Identify genes and variants in various eye diseases
The eye disorder panels consist of multiple panels for various eye disorders includ ing, but not limited to: retinal disorders, optic nerve disorders, corneal diseases, structural diseases, eye movement diseases, glaucoma, cataract, and myopia. Com bined, these panels analyze 81 genes.
Panels for inherited retinal diseases include both syndromic and non-syndromic retinal diseases. A majority of retinal diseases are non-syndromic and limited to an ocular phenotype. However, a minority of retinal diseases are syndromic and have a border phenotype involving multiple organ systems.
Panels for syndromic retinal diseases include: Usher Syndrome, Joubert Syndrome, Senior-Loken Syndrome, Stickler Syndrome, and Bardet-Biedl Syndrome.
Panels for non-syndromic retinal disorders include: Retinitis Pigmentosa, Leber Congenital Amaurosis, Macular Dystrophy, Stargardt Disease, Cone-rod Dystrophy, Exudative Vitreoretinopathy, and Achromatopsia.
Identifying the genes and variants involved in various eye diseases can assist in clin ical management. In addition, identifying targeted therapies may reduce risk of dis ease occurrence and recurrence in families at risk, can improve accuracy of genetic counseling, and may have a positive impact on individuals and families. In many eye diseases, different mutations in the same gene may result in different clinical presentations. In addition, different genes may be associated with a spectrum of variations in disease onset, progression, severity of vision loss and phenotypes can vary among family members.
Genes List
- ATXN7 FTL
- CACNA1A GRIN2A GJB2 PRRT2 GJB6 RDH12
- MECP2 RPGR TGFBI SCN2A CFH SCN8A
- MTRNR1 SYNGAP1 SCN1B TPP1
- USH1G WFS1 RHO HSF4
- RP1 BFSP2 CYP1B1 GALK1 GABRG2 BFSP1 PCDH19 CRYAA SLC2A1 CRYAB ZEB2 CRYGC ALDH7A1 FOXE3 CDKL5 NR2E3 KCNQ2 NRL
- PAX2 CAV1
- POLG CAV2 SLC26A4 SIX1
- SLC9A6 SIX6
- STXBP1 CDKN2B-AS TCF4 TMCO1 TSC1 LTBP2 BEST1 PITX2 RPE65 PAX6 MYO7A OPN1LW PCDH15 OPN1MW SCN1A GPR98 TSC2 MYO15A USH1C OTOF CDH23 PDE6A USH2A PDE6B FOXC1 PRPF31 CHD2 RP2
- CLRN TMC1 CTSD TMPRSS3 EYS
Important Questions
Frequently Asked Questions
Have a question? You might find the answer below in our FAQs!
What is your turnaround time for testing?
We offer same day turnaround time for PCR tests. Toxicology tests will be resulted in 24-36 hours, depending upon targets requested.
Where are you located and how can I sign-up for testing?
We have multiple testing locations across the country. You can book here on our website by selecting your desired testing location.
Do you take insurance?
Most insurances are accepted, but must have doctor’s orders to use insurance. Cash pay rates are available, please contact us for a quote.
How do I receive my results?
Secure results are sent by email or through your provider portal, and can also be shared directly with your referring physician.
