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Suspected Condition: ENPP1 Deficiencies

Rare Calcification Disorders

No-cost genetic testing is being offered through a program sponsored by Inozyme Pharma. The genetic testing is for Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency and ATP binding cassette subfamily C member 6 (ABCC6) Deficiency. ENPP1 Deficiency causes Generalized Arterial Calcification of Infancy (GACI) Type 1 in infants, and Autosomal Recessive Hypophosphatemic Rickets, type 2 (ARHR2) post infancy. ABCC6 Deficiency causes GACI type 2 in infancy.

Disease/Condition(s): ABCC6 Deficiencies, ENPP1 Deficiencies

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Participating Lab

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