No-Cost Genetic Testing Program for Rare Calcification Disorders

This program sponsored by Inozyme Pharma offers global, no-cost genetic testing for the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) and ATP binding cassette subfamily C member 6 (ABCC6) genes. These genes are implicated in two rare, severe, debilitating calcification disorders: ENPP1 Deficiency and ABCC6 Deficiency. Both these disorders can manifest as generalized arterial calcification of infancy (GACI) type 1 in infancy and then autosomal recessive hypophosphatemic rickets type 2 (ARHR2) in the case of ENPP1 Deficiency or Pseudoxanthoma elasticum (PXE) in the case of ABCC6 Deficiency post infancy.

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No-Cost Genetic Testing Program for Thymidine Kinase 2 Deficiency

In partnership with Modis Therapeutics, this No-Cost Genetic Testing Program is available to individuals with a suspected or clinical diagnosis of Thymidine Kinase 2 Deficiency (TK2d), a mitochondrial DNA depletion disorder. TK2d is a rare, underdiagnosed, and often fatal genetic disorder, which can present at any age, from infancy to adulthood.

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No-cost Sponsored Testing Program for Rare Genetic Disorders of Obesity

Uncovering Rare Obesity is a program sponsored by Rhythm Pharmaceuticals. The sponsored genetic testing program includes a 40 gene panel of different genes potentially associated with several rare genetic disorders of obesity. Tests can only be ordered by licensed US healthcare providers for their US-resident patients. The goal of Uncovering Rare Obesity is to expand access to genetic testing for individuals who may have a rare genetic disorder of obesity.

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