We are committed to early detection.
We provide a no-cost genetic testing program to improve detection and understanding of two rare calcification disorders, ENPP1 Deficiency and ABCC6 Deficiency. Offered globally and in partnership with PreventionGenetics, our program tests for mutations in the ENPP1 and ABCC6 genes, both of which are implicated in rare, severe calcification disorders, known as ENPP1 Deficiency and ABCC6 Deficiency. Both the ENPP1ENPP1 and ABCC6 genes produce a critical enzyme, ENPP1 and ABCC6 respectively, which regulate pyrophosphate, or PPi, levels in plasma.
The disorders resulting in a mutation in the ENPP1 gene include:
- Generalized arterial calcification of infancy (GACI) type 1
- Autosomal recessive hypophosphatemic rickets type 2 (ARHR2)
The disorders resulting in a mutation in the ABCC6 gene include:
No-Cost, Third-Party Genetic Testing
Inozyme Pharma introduced the genetic testing program to increase awareness, reduce barriers to genetic testing, and help people and their healthcare providers make more informed decisions about these rare conditions.
Individuals who meet eligibility criteria can receive a no-cost, third-party genetic test to determine if they have the condition or are a carrier for ENPP1 Deficiency and ABCC6 Deficiency.
Key Genes Implicated in PPi Deficiency
Genetic testing will tell you if you have a change, or a mutation, in either the ENPP1 or ABCC6 gene. These mutations are linked to calcification disorders, including low PPi.
| Genes | Deficiency | Diseases |
| ENPP1 gene | ENPP1 Deficiency | Generalized arterial calcification of infancy type 1 (GACI type 1) in infants
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) post-infancy |
| ABCC6 gene | ABCC6 Deficiency | GACI type 2 in infants |
Your healthcare provider (HCP) will order the genetic testing and discuss the potential risks, benefits and limitations of the test, as well as the appropriateness of the genetic testing. You may also want to consider speaking with a genetic counselor before or after having the test, a consultation which is outside of this program.
Although genetic testing can confirm a suspected diagnosis of a calcification disorder linked to ENPP1 or ABCC6 gene mutations, the absence of a genetic alteration does not preclude diagnosis of such a disease.
The Genetic Testing Process
Your HCP will determine if you meet eligibility criteria for a no-cost genetic test through this program.
Your HCP will order your test by following the instructions.
The genetic test will be processed at a genetic laboratory; the results will be sent to your HCP in 2-3 weeks (on average), who will discuss the results with you.
Autosomal Recessive Inheritance
GACI (both type 1 and type 2) and ARHR2 are inherited in an autosomal recessive manner (shown below). This means that an individual needs to inherit two mutations, one from their mother and one from their father, to have ENPP1 or ABCC6 deficiency. That also means that each parent would need to be a carrier of a mutation in one of these genes for the condition, but in general, they would not have the condition themselves. With each child of parents who are carriers, there is a 25% chance to have a child who is affected with the condition, 50% chance to have a child who is an unaffected carrier like their parents and not affected, and a 25% chance to have a child who is not affected and not a carrier. In autosomal recessive conditions, the chance for each scenario is not gender-specific; that is, in each case of child that is affected with the condition, the child could be a boy or a girl.
Information for Your HCP.
Your HCP can contact PreventionGenetics at 1-715-387-0484 and/or mail clinicaldnatesting@preventiongenetics.com or visit https://www.preventiongenetics.com/specialOrders?sp=sp051.
Mention Program # SP051 When Your HCP Contacts PreventionGenetics
Inozyme Pharma is the sponsor of this no-charge genetic testing program, which is performed by an independent third-party laboratory. Inozyme Pharma will receive information regarding the overall testing results for the program but will not be given any patient-identifiable information (such as name, date of birth, or address) linking the result to you or your child. Inozyme Pharma will receive the name and contact information of the HCP who orders the test.
For more information, including how to get started, please see below for our Frequently Asked Questions.
Frequently Asked Questions
What is a genetic test?
A genetic test is a way to look at your DNA, which makes up the genes, to identify if there are changes (called mutations) that may be the cause of a genetic condition.
What will my results tell me?
Your test results will tell you if you have a change in the ENPP1 or ABCC6 gene that may be the cause of your condition. However, a negative test result does not mean you do not have the condition. This means a change in these two genes was not found with the current testing methods.
How do I get started?
Contact your HCP to let them know you are interested in the genetic testing program. Your HCP will need to contact PreventionGenetics to obtain information about the program at 1-715-387-0484 and/or e-mail clinicaldnatesting@preventiongenetics.com.
What information does my HCP need to provide when they contact PreventionGenetics?
Your HCP needs to mention Program # SP051 when contacting PreventionGenetics.
Who determines if I am eligible for the test?
Your HCP will determine if you are eligible to receive this no-cost genetic test.
Will the test require a payment from me or my insurance company?
No, neither you nor your insurance will pay for this test. Inozyme Pharma is sponsoring the genetic testing program at no charge to you or your insurance company. Inozyme Pharma will pay for the test whether a change is found in either gene or not.
Will my or my child’s results be kept confidential?
Yes, you or your child’s test results will be kept confidential. You or your child’s genetic testing results will not be shared with your insurance company or Inozyme Pharma. Inozyme Pharma will receive information regarding the overall testing results for the program but will not be given any identifying information such as you or your child’s name, data of birth or address. Inozyme Pharma will receive the name and contact information of the healthcare provider who orders the test.
