Progressive Familial Intrahepatic Cholestasis Panel
Progressive Familial Intrahepatic Cholestasis (PFIC) is an inherited disorder that causes liver damage in the form of cirrhosis and related symptoms due to the accumulation of bile in the liver.

The Igenomix Progressive Familial Intrahepatic Cholestasis Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of hemochromatosis presenting with the following manifestations:
The clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ABCB11 | Benign Recurrent Intrahepatic Cholestasis, Progressive Familial Intrahepatic Cholestasis | AR | 99.92% | 333 of 334 |
ABCB4 | Intrahepatic Cholestasis Of Pregnancy, Familial Intrahepatic Cholestasis, Gallbladder Disease | AD,AR | 100% | 255 of 256 |
ATP8B1 | Benign Recurrent Intrahepatic Cholestasis, Intrahepatic Cholestasis Of Pregnancy, Progressive Familial Intrahepatic Cholestasis | AD,AR | 99.98% | 140 of 140 |
MYO5B | Diarrhea With Microvillous Atrophy, Microvillus Inclusion Disease | AR | 100% | 86 of 86 |
NR1H4 | Progressive Familial Intrahepatic Cholestasis | AR | 100% | 4 of 4 |
TJP2 | Progressive Familial Intrahepatic Cholestasis, Familial Hypercholanemia | AR | 99.85% | 43 of 43 |
*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial.
**Number of clinically relevant mutations according to HGMD
Bull, L. N., & Thompson, R. J. (2018). Progressive Familial Intrahepatic Cholestasis. Clinics in liver disease, 22(4), 657–669. https://doi.org/10.1016/j.cld.2018.06.003
Baker, A., Kerkar, N., Todorova, L., Kamath, B. M., & Houwen, R. (2019). Systematic review of progressive familial intrahepatic cholestasis. Clinics and research in hepatology and gastroenterology, 43(1), 20–36. https://doi.org/10.1016/j.clinre.2018.07.010
Srivastava A. (2014). Progressive familial intrahepatic cholestasis. Journal of clinical and experimental hepatology, 4(1), 25–36. https://doi.org/10.1016/j.jceh.2013.10.005
Siddiqi, I., & Tadi, P. (2020). Progressive Familial Intrahepatic Cholestasis. In StatPearls. StatPearls Publishing.