By using this panel, 22.0% patients with intrahepatic cholestasis obtained a potential genetic diagnosis, including two harboring large insertions in SLC25A13. Large indels were only identified in NICCD patients, it might attribute to that large indels had high frequency in SLC25A13 and that NICCD was common in Asian [10,29]. The gene discussed is SLC25A13; the disease is neonatal intrahepatic cholestasis due to citrin deficiency.