Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP8B1 gene for Cholestasis, benign recurrent intrahepatic

PreTest Information

Clinical History of Patient who is going for ATP8B1 Gene Cholestasis, benign recurrent intrahepatic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cholestasis, benign recurrent intrahepatic

Detail Description

Understanding ATP8B1 Gene Cholestasis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

ATP8B1 Gene Cholestasis, also known as Benign Recurrent Intrahepatic Cholestasis (BRIC), is a rare genetic condition that affects the liver's ability to produce bile, leading to recurrent episodes of cholestasis. The condition is caused by mutations in the ATP8B1 gene, which encodes for a protein that plays a crucial role in bile secretion.

Symptoms of ATP8B1 Gene Cholestasis

The symptoms of ATP8B1 Gene Cholestasis typically appear in childhood or early adulthood and may include:

• Jaundice (yellowing of the skin and eyes)
• Itching
• Fatigue
• Abdominal pain
• Dark urine
• Pale stools

Episodes of cholestasis may last for a few days to several weeks and can recur throughout a person's life. In between episodes, liver function may return to normal, and there may be no symptoms.

Diagnosis of ATP8B1 Gene Cholestasis

Diagnosis of ATP8B1 Gene Cholestasis involves a combination of medical history, physical examination, and laboratory tests. Your doctor may order:

• Blood tests to check liver function and levels of bilirubin
• Imaging tests, such as an ultrasound or MRI, to examine the liver and bile ducts
• A liver biopsy to examine liver tissue under a microscope

A genetic test may also be performed to identify mutations in the ATP8B1 gene. This test can confirm a diagnosis of ATP8B1 Gene Cholestasis and determine if other family members are at risk of developing the condition.

NGS Genetic DNA Test Cost in India

NGS (Next-Generation Sequencing) Genetic DNA Test is a cutting-edge technology that allows for the rapid and accurate sequencing of DNA. This test can be used to identify mutations in the ATP8B1 gene and other genes associated with liver disease.

In India, the cost of NGS Genetic DNA Test for ATP8B1 Gene Cholestasis ranges from INR 15,000 to INR 25,000, depending on the laboratory and location. This cost may or may not include counseling and interpretation of test results.

Conclusion

ATP8B1 Gene Cholestasis is a rare genetic condition that can cause recurrent episodes of cholestasis. Symptoms may include jaundice, itching, fatigue, and abdominal pain. Diagnosis involves a combination of medical history, physical examination, and laboratory tests, including a genetic test. NGS Genetic DNA Test is a cutting-edge technology that can identify mutations in the ATP8B1 gene and other genes associated with liver disease. The cost of this test in India ranges from INR 15,000 to INR 25,000, depending on the laboratory and location.

If you or a loved one are experiencing symptoms of ATP8B1 Gene Cholestasis, consult with a healthcare provider to determine the best course of action.

For more information on NGS Genetic DNA Test, contact DNA Labs India today.