GenomeDx ultraRapid

The GACI Genetic Testing Program offers whole genome sequencing for children who are suspected of having Generalized Arterial Calcification of Infancy. Whole genome sequencing is the most comprehensive type of genetic test. It reads nearly all of a person's DNA, not just a small number of genes, so it gives your child's doctors the best chance of finding a genetic cause. If the testing does not confirm GACI, the broad scope of the test may still reveal another genetic explanation for your child's symptoms.

Yes, the GACI Genetic Testing Program is completely free to you and your family. BioMarin, a pharmaceutical company, sponsors the program and covers the full cost of testing. You will not receive a bill, and there is no copay or deductible. The test is performed by GeneDx, a leading genetic testing laboratory.

The GACI Genetic Testing Program accepts blood or buccal (cheek swab) samples. Your child's doctor will collect the sample and send it to GeneDx for analysis. The collection process is straightforward and your doctor's office will guide you through what to expect.

The GACI Genetic Testing Program uses ultra-rapid whole genome sequencing, which can deliver results in as soon as 48 hours. Your child's doctor will let you know when to expect results and will walk you through what they mean for your child's care.

Whole genome sequencing looks at virtually all of your child's DNA, including about 20,000 protein-coding genes, non-coding genes, and other regions that smaller tests miss. This means it can identify the genetic changes that cause GACI and may also find other genetic conditions if GACI turns out not to be the cause. It gives your child's medical team the most complete picture possible from a single test.

Genetic counseling support is available as part of the testing process through GeneDx. A genetic counselor can help you understand your child's results, what they mean for your family, and what next steps to consider. Ask your child's doctor about connecting with a genetic counselor before or after testing.

Patients may qualify for GACI Genetic Testing Program if they meet the program's eligibility criteria:

• Your child is less than 12 months old
• You live in the United States
• Imaging (before or after birth) shows arterial calcification not explained by an infection, at one or more of these sites:
  • Aorta
  • Coronary arteries
  • Pulmonary artery
  • Iliac arteries
  • Renal arteries
  • Mesenteric arteries
  • Carotid arteries