Inozyme is providing a no-cost genetic testing program to improve detection and understanding of two rare calcification disorders. Offered globally and in partnership with PreventionGenetics, the Inozyme program tests eligible participants for mutations in the ENPP1 and ABCC6 genes. Both of these genes are implicated in rare, severe calcification disorders, known as ENPP1 deficiency and ABCC6 deficiency, respectively, (sometimes called generalized arterial calcification of infancy [GACI] and autosomal recessive hypophosphatemic rickets type 2 [ARHR2]).
No-Cost, Third-party Genetic Testing
Inozyme created 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 (Ectonucleotide Pyrophosphatase/ Phosphodiesterase 1) deficiency and ABCC6 (ATP binding cassette subfamily C member 6) deficiency.
Genetic testing will tell you if you have a change (a mutation) in either the ENPP1 or ABCC6 gene, the two genes known to reduce levels of inorganic pyrophosphate (PPi), a molecule that regulates calcification. Mutations in the ENPP1 gene can lead to ENPP1 deficiency, sometimes referred to as generalized arterial calcification of infancy type 1 (GACI Type 1) in infants and/or autosomal recessive hypophosphatemic rickets type 2 (ARHR2) post infancy. Mutations in the ABCC6 gene leads to ABCC6 deficiency, which is sometimes referred to as GACI Type 2 in infants.
Your healthcare provider (HCP) will order the genetic testing and discuss the test, risk, benefits and limitations as well as appropriateness of the genetic testing. You may want to consider speaking with a genetic counselor as well 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 Healthcare Provider will order your test following the instructions.
The genetic test will be processed at a genetic laboratory and the results will be sent to your HCP on average within 2-3 weeks, who will discuss the results with you.
ENPP1 Deficiency and ABCC6 Deficiency Brief Overview
The ENPP1 gene produces a critical enzyme called ENPP1, which regulates PPi levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization.
ENPP1 deficiency manifests as GACI type 1 in infancy. A rare, devastating and potentially fatal disease, it is characterized by extensive calcifications and narrowing of the large and medium arteries, resulting in heart failure and death in about half of the patients within the first 6 months of life. Post infancy, ENPP1 deficiency manifests as ARHR2 with typical clinical features of rickets such as weakened bones, skeletal deformities, short stature, and bone pain. During adulthood, ARHR2 clinical findings may include bone pain, fatigue, muscle weakness, and repeated bone fractures
Defects in the ABCC6 gene lead to a decrease in plasma PPi and consequently to soft tissue calcification, and in rare circumstances cause GACI type 2 in infants. GACI type 2 is clinically similar to GACI type 1 and is also characterized by calcification and narrowing of large and medium-sized arteries, resulting in heart failure and death in about half of patients within the first six months of life.
Autosomal Recessive Inheritance
GACI 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 where the child that is affected with the condition, the child could be a boy or a girl.
For more information, including how to get started, please visit our Frequently Asked Questions page.
Information for Your HCP.
Your HCP can contact PreventionGenetics at 1-715-387-0484 and/or e-mail email@example.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 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 will receive the name and contact information of healthcare provider who orders the test.