Sponsored Testing
Programs

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.

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.

No-Cost Patient Testing Program for peroxisome biogenesis disorder - Zellweger spectrum disorder (PBD-ZSD)

In partnership with Retrophin, Inc., this no-cost genetic testing program is available for qualifying patients to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD), a rare autosomal recessive disorder caused by mutations in one of 13 PEX genes and characterized by an impaired peroxisome assembly, leading to multiple enzyme deficiencies. Peroxisomal dysfunction affects nearly all cells of the body from fetal development throughout adult life. Common clinical features of PBD-ZSD likely include vision, hearing, nervous system, and liver/growth impairment.

No-Cost Genetic Testing Program for States Initiating Newborn Screening for X-linked Adrenoleukodystrophy (X-ALD)

Retrophin has partnered with PreventionGenetics to offer a no-cost genetic testing program to qualifying patients to help identify PBD-ZSD and other disorders within the states offering X-ALD newborn screening programs. Testing will be offered to children who screened positive for X-ALD on initial state newborn screen but negative for the disease after further evaluation.

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.