Travere sponsors diagnostic testing at no cost to qualified patients to help accurately identify a variety of conditions.
Laboratory: Prevention Genetics
Genetic testing for pediatric patients with cholestasis or prolonged jaundice without a known cause. The test checks for 77 potential genetic causes of cholestasis.
Genetic testing to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD). PBD-ZSD is 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.
Laboratory: Cincinnati Children’s Hospital Medical Center (CCHMC)
A laboratory test for atypical bile acids (DHCA and THCA) in people with peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD). People living with PBD-ZSD can experience an accumulation of atypical bile acids which are toxic to the liver and may be associated with liver disease.
Genetic testing to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD) within states offering screening for X-linked adrenoleukodystrophy (X-ALD). Testing is offered to children who screened positive for X-ALD on initial state newborn screen but negative for disease after further lab testing.
Testing to help identify the genetic cause of early onset bilateral cataracts through a 66 gene panel.
Laboratory: Oregon Health & Science University (OHSU)
Biochemical testing to help diagnose patients with cerebrotendinous xanthomatosis (CTX) at no cost to qualifying patients. The test measures levels of 7a, 12a-Dihydroxy-4-cholesten-3-one (7a12aC4) which is elevated in people with CTX.