Early-Onset Bilateral Cataracts Sequencing Panel
Genetic test analyzing 66 genes associated with early-onset, often bilateral, cataracts to help identify inherited causes, including metabolic conditions such as CTX.
Accessed through the Scout Sponsored Testing Program•Sponsored by Mirum Pharmaceuticals•Performed by Prevention Genetics
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
This program provides no-cost access to a 66-gene panel for U.S. patients aged 18 months to 35 years with current or historical idiopathic bilateral cataracts. The test evaluates key cataract, connexin, crystallin, developmental, and metabolic genes to support diagnosis and management, including early detection of CTX. Providers assess eligibility and oversee ordering, specimen collection, and result interpretation.
When to consider this test
Patient selection
- Patient must be 18 months to 35 years old.
- Patient has current or historical idiopathic bilateral cataracts (not explained by infection, trauma, or other known causes).
- Patient resides in the United States.
Workflow
How to use this program
- 1
Confirm Eligibility
Verify the patient meets program criteria and discuss the purpose and scope of genetic testing.
- 2
Order, Collect, and Ship
Order the test, complete the TRF, collect and label the specimen with two identifiers, and ship per kit instructions. Whole blood is stable 8 days; frozen blood ships on dry ice. Buccal, saliva, DNA, and OCD-100 samples ship at room temp.
- 3
Review Results
Results return in 3–4 weeks after receipt of specimen and paperwork. Review findings with the patient and integrate them into clinical care.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
Testing is performed by Prevention Genetics, a CLIA-certified laboratory (CLIA 52D2065132) and College of American Pathologists (CAP) certified laboratory (CAP 7185561). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Frequently asked questions
What does this program offer?
The program provides no-cost access to a 66-gene panel for U.S. patients with early-onset or historical idiopathic bilateral cataracts, supporting diagnosis, variant clarification, and evaluation of metabolic causes such as CTX.
Which patients qualify?
Eligible patients are 18 months to 35 years old, reside in the U.S., and have current or past bilateral cataracts not attributed to infection, trauma, or other known causes. Providers confirm eligibility before ordering.
What genes are included in the panel?
The panel evaluates 66 genes associated with early-onset cataracts, including crystallin genes (CRYAA, CRYAB, CRYBA1, CRYBB2, CRYGC, CRYGD), connexin genes (GJA3, GJA8), and metabolic/developmental genes such as CYP27A1, GALK1, GALT, PAX6, and others.
How do I order the test?
Order testing through the PreventionGenetics TRF. Kits may be requested online and include the necessary collection materials and shipping materials.
What specimen types are accepted?
Whole blood, DNA, saliva, and buccal samples are accepted. Whole blood is stable up to 8 days refrigerated or at room temperature; frozen blood should be shipped on dry ice. OCD-100 buccal samples are stable at room temperature.
What is the turnaround time?
Results are typically available within 3–4 weeks after the lab receives the specimen and completed paperwork.
Is genetic counseling available?
Genetic counseling services for patients and families are not included. However, PreventionGenetics genetic counselors are available to discuss results with ordering providers. Contact +1 715-387-0484 or [email protected].
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