Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRKCSH gene for Polycystic liver disease

PreTest Information

Clinical History of Patient who is going for PRKCSH Gene Polycystic liver disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRKCSH Gene Polycystic liver disease NGS Genetic DNA Test gene PRKCSH

Detail Description

PRKCSH Gene Polycystic Liver Disease NGS Genetic DNA Test

Polycystic liver disease (PLD) is a rare, genetic condition that causes multiple cysts to form in the liver. PLD can lead to liver failure and other complications if left untreated. One of the genes associated with PLD is the PRKCSH gene.

Symptoms of Polycystic Liver Disease

PLD can cause a range of symptoms, including:

• Abdominal pain or discomfort
• Bloating
• Nausea
• Vomiting
• Shortness of breath
• Jaundice (yellowing of the skin and eyes)

Many people with PLD have no symptoms and may not be aware they have the condition until it is discovered during imaging tests for other conditions.

Diagnosis of Polycystic Liver Disease

PLD is usually diagnosed with imaging tests, such as an ultrasound, CT scan, or MRI. Blood tests may also be ordered to check liver function.

PRKCSH Gene and Polycystic Liver Disease

The PRKCSH gene is one of several genes that have been linked to PLD. The PRKCSH gene provides instructions for making a protein called hepatocystin, which is involved in the formation and maintenance of bile ducts in the liver.

Mutations in the PRKCSH gene can disrupt the formation and function of bile ducts, leading to the development of cysts in the liver. PLD caused by mutations in the PRKCSH gene is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition.

NGS Genetic DNA Test for PRKCSH Gene Polycystic Liver Disease

Next-generation sequencing (NGS) is a genetic testing technology that can analyze multiple genes at once. NGS can be used to test for mutations in the PRKCSH gene that are associated with PLD.

The NGS test for PRKCSH gene PLD is a simple blood test that can be done in a doctor's office or laboratory. The cost of the test is INR 20,000.

Conclusion

PLD is a rare, genetic condition that can cause multiple cysts to form in the liver. Mutations in the PRKCSH gene have been linked to PLD. An NGS genetic DNA test can be used to diagnose PRKCSH gene PLD and costs INR 20,000.

If you are experiencing symptoms of PLD or have a family history of the condition, talk to your doctor about whether genetic testing is right for you.