GeneDx and Mirum Pharmaceuticals have partnered to provide no-cost exome sequencing for eligible patients across cholestasis, early-onset cataracts, and peroxisomal biogenesis disorder-Zellweger spectrum disorders (PBD-ZSD) testing programmes.
The collaboration seeks to help medical practitioners uncover the genetic origins of unexplained symptoms, involve multiple organ systems, or mimic other illnesses, with the goal of guiding clinical management and treatment pathways.
The programme provides qualifying patients with GeneDx’s ExomeDx test, offered in proband, duo, or trio configurations.
Physicians will obtain detailed diagnostic reports with professional result interpretation, alongside post-test genetic counselling provided by GeneDx to assist patients and families with next steps.
Participation is governed by distinct eligibility requirements across each area. The cataract programme covers individuals aged two to 35 years experiencing idiopathic cataracts that do not stem from trauma, infection, or non-genetic factors.
The cholestasis category targets patients presenting with unexplained chronic liver disease, characteristic clinical symptoms, or a family history of confirmed genetic cholestasis, including suspected conditions such as Alagille syndrome and progressive familial intrahepatic cholestasis.
Cases involving total parenteral nutrition-associated cholestasis or suspected extrahepatic drivers as a primary diagnosis are excluded.
The PBD-ZSD programme is open to patients with diagnosed or suspected conditions caused by PEX gene alterations, including those suffering neurological, auditory, visual, or hepatic decline.
GeneDx chief business officer Lisa Gurry said: “Rare genetic conditions can affect multiple organ systems and look remarkably different from one patient to the next, making timely diagnosis especially challenging.
“GeneDx helps clinicians and patients find earlier answers through advanced genetic testing, expert clinical interpretation, and the world’s largest rare disease dataset.
“Our collaboration with Mirum builds on our commitment to breaking down barriers to genetic testing, accelerating diagnosis and empowering clinicians to make more informed care decisions for patients with rare diseases.”
GeneDx holds US Food and Drug Administration (FDA) breakthrough device designation for its technologies and offers products, including ExomeDx, GeneDx Infinity, and GenomeDx.
In June 2025, GeneDx reported new data from the SeqFirst study highlighting the impact of rapid exome sequencing (rES) and rapid genome sequencing (rGS) as a first-tier test for non-critical paediatric inpatients.
