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PBD-ZSD sponsored testing program
Mirum Pharmaceuticals, in partnership with GeneDx, offers a no-cost genetic testing program for eligible patients with suspected or confirmed PBD-ZSD.
Eligible patients will receive no-cost exome testing through this sponsored program.
What is PBD-ZSD?
PBD-ZSD is a group of rare, inherited genetic disorders caused by pathogenic variants in PEX genes, which are responsible for the formation and function of peroxisomes.
Peroxisomes play an essential role in normal metabolism, including the breakdown of fatty acids and other important cellular processes. When they do not function properly, patients can experience progressive, multisystem disease affecting the neurological, hepatic, auditory, and visual systems.
Because symptoms vary considerably and often overlap with other rare disorders, comprehensive genomic testing can help establish an accurate diagnosis, inform clinical management, and support appropriate treatment decisions.
Is your patient eligible?
Patients must meet all of the following criteria:
- Patient must reside in the United States
- Diagnosed with Peroxisomal Biogenesis Disorder – Zellweger Spectrum Disorder (PBD-ZSD) OR Clinical suspicion of Peroxisomal Biogenesis Disorder – Zellweger Spectrum Disorder (PBD-ZSD), including patients with neurological, vision, hearing, or hepatic deterioration
How does the program work?
To order ExomeDx™ follow the below steps, for rapid testing see the following section.
Eligibility
Eligibility criteria must be met.
Ordering
For portal orders, log in here or follow these steps to create an account. Provide the program code (STP-MIRUM-ZSD) after adding ExomeDx™ (proband, duo, or trio) to your cart. For paper TRF orders, use this specific TRF.
Order a collection kit
This program requires a dedicated collection kit. Use this link to order your collection kit now.
Report
You will receive a comprehensive clinical report with expert interpretation of your patient’s results.
Billing
No claim will be submitted to a patient’s insurance. All tests are covered directly by Mirum Pharmaceuticals.
Genetic counseling services
GeneDx offers comprehensive genetic counseling services with a referral from your healthcare provider.
A genetic counselor is a healthcare professional who can help you better understand the genetic testing process and, after your results are available, explain the findings on the report.
Our services include:
- A consent education video that provides an overview of exome and genome testing, as well as your consenting options.
- Post-test genetic counseling discussion to better understand your results and potential next steps.
- Phone appointments with flexible scheduling options, including evening availability.
- Support and guidance for you and your family, including connecting you with support groups for ongoing assistance.
Forms
Test requisition form
About Mirum Pharmaceuticals
Mirum Pharmaceuticals is a leading rare disease company with a global footprint of approved products and a broad pipeline of investigational medicines. Purpose-built to bring forward breakthrough medicines for people with overlooked conditions, Mirum focuses on rare liver and rare genetic diseases, where it has built deep expertise and strong connections to patient communities.
As part of their ongoing commitment to helping patients with rare diseases experience a brighter future, Mirum Pharmaceuticals is proud to partner with GeneDx to offer a range of no cost genetic testing kits through our Scout by Mirum Program. We believe helping health care professionals and their patients on their journey is an important step to diagnosis and treatment.
