Genetic Testing Program
uRGS GACI Sponsored Testing Program
BioMarin, in partnership with GeneDx, is offering no-cost genetic testing that provides ultraRapid genome sequencing (uRGS) for infants with suspected Generalized Arterial Calcification of Infancy (GACI) due to ENPP1 Deficiency (GACI Type 1) or ABCC6 Deficiency (GACI Type 2).
Have questions? Connect with BioMarin here.
Benefits of sponsored genome testing for GACI
Comprehensive genome testing with results in as soon as 48 hours
With GenomeDx ultraRapid, your patient gets results in as soon as 48 hours.
Advances future care
Data from this program helps to build a better understanding of the disease to develop future care treatment.
About GACI
- GACI Type 1 and 2 are rare, devastating and potentially fatal diseases, characterized by extensive calcifications and narrowing of the large and medium arteries, resulting in cardiovascular dysfunction and death in about half of the patients within the first six months of life.
- GACI Type 1 and 2 are inherited in an autosomal recessive manner, meaning that an individual needs to inherit two variants, one from their mother and one from their father.
Is your patient eligible?
Testing will be available to infants less than 12 months of age in the United States and must meet all of the following criteria:
- Patient must have pre-natal or post-natal imaging evidence of arterial calcification*, (not otherwise explained by infectious etiology)
*Includes calcification of the aorta, coronary arteries, pulmonary artery, iliac arteries, renal arteries, mesenteric arteries, or carotid arteries.
How does the program work?
The testing works like any other GeneDx test order, with a few differences.
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-GACI) after adding GenomeDx ultraRapid (proband, duo, or trio) to your cart. For paper TRF orders, use this specific GACI TRF. To collect samples follow these instructions.
Sample Collection
Request a sample collection kit, collect the sample, and ship it to our lab using the provided materials. Detailed instructions are included with every kit.
Report
You will receive your patient’s report. Please note if a variant of uncertain significance is detected in the proband, then parental segregation will run in parents’ samples.
Billing
No claim will be submitted to a patient's insurance for this sponsored testing program.
Acceptable Samples Types
Please note the special shipping information for ultraRapid Genome Sequencing cases:
To avoid delays with the expedited turnaround time, use of the GeneDx ultraRapid shipping bag with the provided FedEx First Overnight shipping label is required. If you need a shipping label or ultraRapid bag, email [email protected] with “ultraRapid” in the subject line.
Additional resources
GACI Sponsored Genetic Testing Program test requisition form
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Help your patients find answers
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