ROTOR SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
850,00€
The Rotor Syndrome panel analyzes two genes involved in this benign inherited disorder of conjugated hyperbilirubinemia, caused by defects in the hepatic transport of bilirubin into the bile. The syndrome is characterized by chronic mild jaundice, without hemolysis or liver damage, and is due to biallelic mutations in the SLCO1B1 and SLCO1B3 genes, which encode the hepatic transporters OATP1B1 and OATP1B3. These defects prevent the proper uptake and excretion of conjugated bilirubin by the hepatocyte.
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