Pipeline
The Genetic Testing Process
Consider getting tested for ENPP1 Deficiency if you’ve experienced the symptoms described or have been diagnosed with GACI and/or ARHR2
Individuals who meet the eligibility criteria for the testing program can receive a no-cost, third-party genetic test to determine if they have the condition or are a carrier for ENPP1 Deficiency. Those with confirmed ENPP1 status may be eligible to participate in studies to help researchers better understand and treat the condition, including the ENPP1 Deficiency Prospective Observational Study previously mentioned.
Early symptoms
Heart failure, respiratory problems, hypertension, heart attack, neurological problems (stroke, seizure)
Symptoms in children
Skeletal deformities, short stature, severe bone pain, bone fractures, hearing loss, neurological problems (stroke, seizure)
Symptoms in adults
Severe bone and joint pain, fatigue, muscle weakness, bone fractures, loss of mobility, hypertension
Download Diagnostic Pathway
Your HCP can contact PreventionGenetics at 1‑715‑387‑0484 and/or email clinicaldnatesting@preventiongenetics.com
or visit this website.
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