The Igenomix Congenital Hepatic Fibrosis Gene Panel can be used to make a directed and accurate differential diagnosis of hepatic fibrosis, ultimately leading to a better management of the comorbidities associated with it and a better prognosis of the disease.
CHF is caused by malformations and abnormalities in the development of bile ducts starting with the ductal plate. The bile ducts are responsible for ensuring normal blood flow in the vessels of the hepatic portal system as well as the flow of bile. Thus, malformations in this system can disrupts this flow and leads to CHF. This condition is inherited mostly in an autosomal recessive pattern although autosomal dominant and X-linked forms are also found.
The Igenomix Congenital Hepatic Fibrosis Gene Panel is indicated for those patients with a clinical suspicion or diagnosis on hepatic fibrosis with other manifestations including:
The clinical utility of this panel is:
| GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** | |
| EFHC1 | Juvenile Absence Epilepsy, Juvenile Myoclonic Epilepsy | AD | 100% | 38 of 39 | |
| IL17A | Arthritis, Bonchiolitis Obliterans, Amebiasis, Allergic Contact Dermatitis, Colitis | – | 100% | NA of NA | |
| IL17F | Autosomal Dominant Familial Candidiasis, Chronic Mucocutaneous Candidiasis | AD | 100% | 3 of 3 | |
| MCM3 | Grade III Astrocytoma, Lung Cancer | – | 99.91% | NA of NA | |
| PAQR8 | Epilepsy With Generalized Tonic-Clonic Seizures, Myoclonic Juvenile Epilepsy | – | 99.98% | 1 of 1 | |
| PKHD1 | Autosomal Recessive Polycystic Kidney Disease | AR | 99.97% | 582 of 585 | |
*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
Drögemüller, M., Jagannathan, V., Welle, M. M., Graubner, C., Straub, R., Gerber, V., Burger, D., Signer-Hasler, H., Poncet, P. A., Klopfenstein, S., von Niederhäusern, R., Tetens, J., Thaller, G., Rieder, S., Drögemüller, C., & Leeb, T. (2014). Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. PloS one, 9(10), e110125. https://doi.org/10.1371/journal.pone.0110125
De Vos, M., Barbier, F., & Cuvelier, C. (1988). Congenital hepatic fibrosis. Journal of hepatology, 6(2), 222–228. https://doi.org/10.1016/s0168-8278(88)80036-9
Wen J. (2011). Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. Clinical and translational science, 4(6), 460–465. https://doi.org/10.1111/j.1752-8062.2011.00306.x
