Diagnostic Testing Programs

Retrophin sponsors diagnostic testing at no cost to qualified patients to help accurately identify a variety of conditions.

Cholestasis Testing

Retrophin has partnered with EGL Genetics to provide genetic testing for pediatric patients with cholestasis or prolonged jaundice without a known cause. The test checks for 66 potential genetic causes of cholestasis. Learn more about the genetic cholestasis panel.

Bile Acid Synthesis Disorders Testing

Retrophin has partnered with Cincinnati Children's Hospital Medical Center (CCHMC) to offer a urinary bile acid profile test at no cost to qualifying patients. The testing program serves to help provide a diagnosis to patients with cholestasis or unexplained liver disease. Learn more about the atypical bile acid test .

PBD-ZSD Genetic Testing

Retrophin has partnered with PreventionGenetics to offer no-cost genetic testing to qualifying patients 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. Learn more about genetic testing for PBD-ZSD.

PBD-ZSD Atypical Bile Acid Test

Retrophin has partnered with Cincinnati Children's Hospital Medical Center to offer 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. Learn more about the PBD-ZSD atypical bile acid test.

Genetic Testing for PBD-ZSD in States with Newborn Screening for X-ALD

Retrophin has partnered with PreventionGenetics to offer no-cost genetic testing to qualifying patients to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD) within states offering 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. Learn more about the X-ALD newborn screening reflex test.

CTX Dried Blood Spot Testing

Retrophin has partnered with the Oregon Health & Science University (OHSU) to provide testing to help diagnose patients with cerebrotendinous xanthomatosis (CTX) at no cost to qualifying patients. The test measure levels of 7a, 12a-Dihydroxy-4-cholesten-3-one (7a12aC4) which is elevated in people with CTX. Learn more about CTX testing.