Sponsored diagnostic testing programs for ENPP1 and ABCC6 Deficiencies
ENPP1 and ABCC6 deficiencies are rare genetic disorders that disrupt normal pyrophosphate (PPi) regulation, leading to abnormal mineralization in blood vessels and soft tissues. ENPP1 deficiency can cause generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2). ABCC6 deficiency is associated with calcification disorders including GACI type 2 and features that overlap with pseudoxanthoma elasticum. Early diagnosis through genetic testing is important for understanding disease severity, guiding management, and informing family risk.
1 program found for ENPP1 and ABCC6 Deficiencies
This Inozyme Pharma–sponsored program offers no-cost testing for ENPP1 and ABCC6, genes associated with GACI type 1 and later manifestations such as ARHR2 or PXE. Genetic confirmation supports diagnosis, management decisions, and assessment of family risk.
