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Endocrinology / Metabolic / NeurologyX-linked Adrenoleukodystrophy (X-ALD)

X-ALD Newborn Screening Reflex Panel

A 26-gene panel assessing X-ALD and related peroxisomal disorders, including ABCD1, to support diagnosis in patients with neurologic symptoms or adrenal dysfunction.

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 no-cost testing program supports U.S. patients with a positive state newborn screen for X-ALD or relatives of PBD-ZSD–positive patients previously tested at PreventionGenetics. Testing must be ordered by a qualified healthcare provider. The program is designed to aid timely diagnosis and inform patient management.

When to consider this test

Patient selection

  • Patient had a positive X-ALD newborn screen, OR
  • Patient is a blood relative (sibling, cousin) of a PreventionGenetics-confirmed PBD-ZSD case
  • Patient resides in the United States

Workflow

How to use this program

  1. 1

    Confirm Eligibility

    Verify the patient meets criteria and review the purpose of testing.

  2. 2

    Order and Collect Specimen

    Order the test, collect blood or buccal specimen per kit instructions, complete the TRF, label with two identifiers, and ship Monday–Saturday per included directions.

  3. 3

    Ship to the Lab

    Ship specimens using the provided label. Blood is stable 8 days at room temp or refrigerated; frozen blood acceptable for 1 month. Buccal samples ship at room temp.

  4. 4

    Review Results

    Results return in about 3–4 weeks. Discuss findings with the patient or caregiver.

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 eligible?

Patients with a positive state newborn screen for X-ALD or blood relatives of PreventionGenetics-confirmed PBD-ZSD cases. Patients must reside in the U.S.

Which genes are analyzed?

The panel evaluates 26 genes associated with X-ALD and peroxisomal disorders, including ABCD1 and related peroxisome biogenesis genes.

What specimens are accepted?

Blood or buccal specimens may be submitted. Follow kit instructions for collection, labeling, and shipping.

How long is turnaround time?

Results are typically available in 3–4 weeks from specimen receipt with completed documentation.

Is genetic counseling included for patients?

Patient counseling is not included in this program. However, PreventionGenetics genetic counselors are available to review results with ordering providers at +1 715-387-0484 or [email protected].

Can I order kits for my practice?

Yes. Buccal collection kits and shipping materials can be requested through the online kit order form.

Test details

  • ConditionX-linked Adrenoleukodystrophy (X-ALD)
  • Test typeTargeted NGS Panel
  • Test code12671
  • Genes / markers
    26
  • Key genes / markersABCD1
  • 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

Cholestasis Sequencing Panel

Scout•Mirum Pharmaceuticals

PBD-ZSD Sequencing Panel

Scout•Mirum Pharmaceuticals

Early-Onset Bilateral Cataracts Sequencing Panel

Scout•Mirum Pharmaceuticals

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