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Cholestasis Testing
Laboratory: EGL Genetics
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
Learn more about bile acid synthesis disorders; PBD-ZSD; or CTX
Bile Acid Synthesis Disorders Testing
Laboratory: Cincinnati Children’s Hospital Medical Center (CCHMC)
Urinary bile acid profile test to help provide a diagnosis to patients with cholestasis or unexplained liver disease.
Learn more about the atypical bile test
Learn more about bile acid synthesis disorders
PBD-ZSD Genetic Testing
Laboratory: PreventionGenetics
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.
Learn more about genetic testing for PBD-ZSD
Learn more about PBD-ZSD
PBD-ZSD Atypical Bile Acid Testing
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.
Learn more about the PBD-ZSD atypical bile acid test
Learn more about PBD-ZSD
Genetic Testing for
PBD-ZSD in States with Newborn Screening for X-ALD
Laboratory: PreventionGenetics
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.
Learn more about the X-ALD newborn screening reflex test
Learn more about PBD-ZSD
Behind the Blur – Genetic Testing for Early-Onset Bilateral Cataracts
Laboratory: PreventionGenetics
Testing to help identify the genetic cause of early onset bilateral cataracts through a 66 gene panel.
Learn more about the early onset bilateral cataracts test
Learn more about CTX
Biochemical CTX Testing
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.
Therapeutic Areas
RET144
