GenomeDx ultraRapid
No-charge ultraRapid whole genome sequencing (uRGS) from GeneDx for infants with suspected GACI (ENPP1/ABCC6), results in as soon as 48 hours, sponsored by BioMarin.
Accessed through the GACI Genetic Testing Program Sponsored Testing Program•Sponsored by BioMarin•Performed by GeneDx
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The GACI Genetic Testing Program provides BioMarin-sponsored whole genome sequencing for patients with suspected Generalized Arterial Calcification of Infancy, performed by GeneDx at no cost to the patient or ordering provider. Because this is whole genome sequencing rather than a targeted panel, it interrogates the full breadth of coding, non-coding, and non-genic regions, maximizing diagnostic yield and enabling identification of alternative genetic etiologies when GACI is not confirmed. Ultra-rapid turnaround, with results available in as soon as 48 hours, supports time-sensitive clinical decision-making in this critically ill population.
When to consider this test
Patient selection
- Infant less than 12 months of age
- Resides in the United States
- Pre-natal or post-natal imaging evidence of arterial calcification (not otherwise explained by an infectious etiology) at one or more of the following sites:
- Aorta
- Coronary arteries
- Pulmonary artery
- Iliac arteries
- Renal arteries
- Mesenteric arteries
- Carotid arteries
Workflow
How to use this program
- 1
Identify eligible patients
Consider patients with suspected or confirmed ARVC, concerning arrhythmias, or relevant family history.
- 2
Order through your usual workflow
Use your standard ordering process for submitting tests to Example Genetics Lab (portal or existing workflows).
- 3
Integrate results into management
Use results to refine diagnosis, guide cascade testing, and inform monitoring and treatment decisions.
- 4
Plan follow-up and cascade testing
Determine downstream actions including surveillance, family member testing, and long-term management plans.
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 GeneDx, a CLIA-certified laboratory (CLIA CLIA 12D3456789). 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 GACI Genetic Testing Program?
The GACI Genetic Testing Program is designed for patients with a clinical suspicion of Generalized Arterial Calcification of Infancy who meet the program's eligibility criteria. Because the assay is whole genome sequencing, it is well-suited for cases where the differential is broad or where prior targeted testing has been inconclusive. The program is available to patients in the United States.
What does the GACI sponsored test cover and what is the assay methodology?
The program provides comprehensive whole genome sequencing performed by GeneDx. This assay sequences the full genome, encompassing approximately 20,000 protein-coding genes, non-coding genes, and non-genic regions that exome sequencing would miss. This breadth supports identification of pathogenic variants associated with GACI and can also reveal alternative genetic diagnoses when the primary indication is not confirmed.
What specimen types are accepted and how do I obtain collection kits for GACI testing?
The GACI Genetic Testing Program accepts blood and buccal swab specimens. Collection kits can be ordered through the GeneDx provider portal. A program-specific test requisition form (TRF) is required for all GACI sponsored testing orders and is available for download from the GeneDx website.
What is the turnaround time for GACI ultra-rapid whole genome sequencing?
The GACI Genetic Testing Program utilizes GeneDx's ultra-rapid genome sequencing workflow, which can return results in as soon as 48 hours. This accelerated turnaround is particularly relevant given the acute clinical trajectory of GACI and the need for timely diagnostic and management decisions.
Is there any cost or prescribing obligation when ordering through the GACI Genetic Testing Program?
There is no cost to the patient, the patient's family, or the ordering clinician. BioMarin sponsors the program and covers the full cost of testing. Ordering through the GACI Genetic Testing Program carries no purchase or prescribing obligation of any kind. The test is performed by GeneDx.
Is genetic counseling support available for GACI whole genome sequencing orders?
GeneDx provides genetic counseling support for orders placed through the GACI Genetic Testing Program. This resource is available to assist with pre-test counseling considerations, results interpretation, and family communication. Clinicians can contact GeneDx directly for additional support.
Which patients are eligible for GACI Genetic Testing Program Generalized Arterial Calcification of Infancy genetic testing?
Patients may qualify for GACI Genetic Testing Program if they meet the program's eligibility criteria:
- Infant less than 12 months of age
- Resides in the United States
- Pre-natal or post-natal imaging evidence of arterial calcification (not otherwise explained by an infectious etiology) at one or more of the following sites:
- Aorta
- Coronary arteries
- Pulmonary artery
- Iliac arteries
- Renal arteries
- Mesenteric arteries
- Carotid arteries
See an issue with this program?