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Ophthalmology / GeneticsEarly-Onset Bilateral Cataracts

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

The Scout program, sponsored by Mirum Pharmaceuticals and performed by Prevention Genetics, provides a no-cost 66-gene sequencing panel for eligible U.S. patients presenting with current or historical idiopathic early-onset bilateral cataracts. The panel interrogates cataract, connexin, crystallin, developmental, and metabolic genes, enabling identification of actionable etiologies such as CTX where early intervention can alter disease trajectory. Ordering is straightforward, carries no prescribing or purchase obligation, and the sponsor covers all testing costs.

When to consider this test

Patient selection

  • To qualify, all of the following must be met:
    • Patient is aged 18 months to 35 years
    • Patient has current or history of idiopathic bilateral cataracts (e.g., not known to be due to infectious causes, trauma, etc.)
    • Patient lives in the U.S.
    • Not intended for patients with suspected congenital cataracts

Workflow

How to use this program

  1. 1

    Confirm Eligibility

    Verify the patient meets program criteria and discuss the purpose and scope of genetic testing.

  2. 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. 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

Which patients are appropriate for the Scout early-onset bilateral cataracts sequencing panel?

The Scout program serves U.S. patients aged 18 months to 35 years with current or a history of idiopathic bilateral cataracts not attributable to infectious, traumatic, or other known secondary causes. Ordering clinicians assess eligibility against the program's defined criteria before placing an order. There is no cost to the patient or the ordering practice.

What genes and methodology does the Scout bilateral cataracts panel cover?

The Scout Early-Onset Bilateral Cataracts Sequencing Panel analyzes 66 genes via next-generation sequencing (NGS). The panel encompasses cataract, connexin, crystallin, developmental, and metabolic gene categories, including genes associated with cerebrotendinous xanthomatosis (CTX). Testing is performed by Prevention Genetics.

What specimen types are accepted and how is the kit obtained for the Scout cataracts program?

The Scout program accepts whole blood or buccal swab (OCD-100) specimens. Sample collection kits can be ordered at no charge directly through Prevention Genetics. The kits are shipped to your practice, and completed specimens are returned to the lab for processing.

What is the turnaround time for the Scout early-onset bilateral cataracts genetic test?

The Scout Early-Onset Bilateral Cataracts Sequencing Panel has a turnaround time of 2 to 3 weeks from specimen receipt at Prevention Genetics. Results are returned to the ordering clinician for interpretation and patient communication.

Is there any prescribing or purchase obligation when ordering through the Scout sponsored testing program?

There is no prescribing or purchase obligation associated with ordering through the Scout program. Mirum Pharmaceuticals sponsors and fully funds the testing, so neither the patient nor the practice incurs any cost. The program exists to support diagnostic clarity for patients with idiopathic early-onset bilateral cataracts.

Is genetic counseling available through the Scout bilateral cataracts testing program?

The ordering clinician is responsible for result interpretation and patient communication. Prevention Genetics offers experienced support throughout the testing process, including assistance with ordering, specimen logistics, and understanding results. Referral to a genetic counselor is at the clinician's discretion based on findings.

Which patients are eligible for Scout Early-Onset Bilateral Cataracts genetic testing?

Patients may qualify for Scout if they meet the program's eligibility criteria:

  • 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.

Test details

  • ConditionEarly-Onset Bilateral Cataracts
  • Test typeLarge NGS Panel
  • Test code13315
  • Genes / markers
    66
  • Key genes / markersCRYAA, CRYAB, CRYBA1, CRYBB2, CRYGC, CRYGD, GJA3, GJA8, MIP, LIM2, BFSP1, BFSP2, HSF4, MAF, PITX3
  • SpecimenWhole blood•Buccal swab
  • Turnaround time2-3 Weeks
  • LabPrevention Genetics
  • Program regionUnited States

Getting started

Use the links below to review program details, place orders, print requisitions, or request collection kits.

Performing lab

Prevention Genetics

Available in: United States

Order testPrint requisitionOrder collection kitLearn more

Privacy & ordering: This directory doesn't handle PHI. Orders occur on participating labs' systems. Privacy & Compliance

Other Tests in This Program

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Scout•Mirum Pharmaceuticals

PBD-ZSD Sequencing Panel

Scout•Mirum Pharmaceuticals

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