Progressive Familial Intrahepatic Cholestasis

Genomics Precision Diagnostic > Gastroenterology > Progressive Familial Intrahepatic Cholestasis

Progressive Familial Intrahepatic Cholestasis Panel – 6 genes

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.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

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. There are three types of PFIC that are caused by changes in different genes but have similar symptoms and presentation. Individuals with PFIC1 are more severely affected and have additional health concerns on top of liver disease. Individuals with PFIC2 and PFIC3 show symptoms that are primarily associated with liver disease only and vary in age of onset and severity. All three types of PFIC are inherited in an autosomal recessive manner. 
The Igenomix Progressive Familial Intrahepatic Cholestasis Precision Panel can be used to make a directed and accurate differential diagnosis of liver disease, ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

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:

Itching (pruritus) 
Yellow skin (jaundice) 
Poor growth and weight gains 
Fatigue 
Enlargement of the liver and spleen (hepatomegaly, splenomegaly)

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team for early pharmacologic treatment, surgical care, and dietary modifications.
Risk assessment of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

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; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

See scientific referrals

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