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!
Who can use Simplicity Diagnostics?
Simplicity Diagnostics works with physicians, medical practices, clinics, hospitals, and other healthcare organizations.
How do I become a provider?
Getting started is simple. Complete our Become a Provider form, and our team will contact you to help with enrollment and next steps.
What types of testing do you offer?
We offer a range of diagnostic and specialty testing, including genetic and genomic testing, pharmacogenomics (PGx), oncology-related testing, metabolic testing, immunology, toxicology, and other specialty laboratory services.
How quickly will we receive results?
Many tests have a typical turnaround time of 24–48 hours, although turnaround times vary depending on the specific test and specimen requirements.
How do I order a test?
Once your practice is set up as a provider, our team will provide the information and resources needed to order testing and submit specimens.
How are test results delivered?
Test results are delivered securely through our provider workflow. Our team can help your practice understand the process and access results.
Can your team help our office choose the right test?
Yes. If your practice has questions about test selection, specimen requirements, ordering, or other laboratory-related needs, our provider support team is available to assist.
What specimen types do you accept?
Specimen requirements vary by test. Please refer to the specific test information or contact our provider support team before collecting or shipping a specimen.
Do you work with insurance?
Insurance coverage and patient responsibility can vary by test, patient, and plan. Our team can provide information about the billing process and available options.
Can I speak with someone about setting up my practice?
Absolutely. Contact our team and we can walk your practice through the process of becoming a Simplicity Diagnostics provider.
Why should my practice choose Simplicity Diagnostics?
We focus on making laboratory testing simple for healthcare providers through reliable testing, fast turnaround times, a broad test menu, and responsive provider support.
How do I get started?
The first step is simple: Become a Simplicity Diagnostics provider.
