MOLECULAR STUDY GENE PNPLA3 (POLIMORPHISM I148M) SCRENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3849

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	20 days
Information:
The accumulation of fat in the liver (fatty liver) is a disease whose prevalence is increasing worldwide, currently regarded as the leading cause of chronic liver disease. Fatty liver can occur in two clinical forms: a benign form called steatosis in which there is simply the accumulation of fat in liver without pathogenic consequences and an aggressive form called steatohepatitis which can lead to cirrhosis and even liver cancer. Steatohepatitis can occur in patients with normal transaminases. Although, as mentioned, steatosis is a benign, up to 20% of patients the disease may progress to severe forms of steatohepatitis and liver cirrhosis and therefore is clinically important to distinguish between steatosis and steatohepatitis. Recently it has been described a polymorphism in the gene PNPLA3 that is associated with liver fat levels (Hepatology 2010; 52:894-903). Carriers of the CG or GG polymorphisms are much more likely to develop a severe form of steatohepatitis and even cirrhosis, while the CC have a favorable prognosis in the evolution of the disease.
Links:
OMIM Entry - -609567 - PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3

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