Consider genetic testing for ENPP1 Deficiency and ABCC6 Deficiency
If your patient has experienced the symptoms described or has been diagnosed with GACI Type 1, GACI Type 2, and/or hypophosphatemic rickets.
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 or ABCC6 Deficiency. Those with confirmed ENPP1 Deficiency or ABCC6 Deficiency may be eligible to participate in studies to help researchers better understand and treat the conditions.
For infants suspected of having GACI, sponsored ultra rapid whole genome sequencing is available through Rady Genomics Institute — for more information, please reach out to Catherine Nester at catherine.nester@inozyme.com or 717-587-0845.
For prenatal samples, children, or adults suspected of having ENPP1 or pediatric onset ABCC6 Deficiency gene testing of the ENPP1 and ABCC6 gene is available through Prevention Genetics.
