Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCB11 gene for Cholestasis benign recurrent intrahepatic type 2

PreTest Information

Clinical History of Patient who is going for ABCB11 Gene Cholestasis benign recurrent intrahepatic type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cholestasis benign recurrent intrahepatic type 2

Detail Description

ABCB11 Gene Cholestasis Benign Recurrent Intrahepatic Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Cholestasis is a medical condition that affects the liver's ability to produce and release bile. The ABCB11 gene is responsible for encoding a protein that is involved in the transport of bile from the liver to the intestines. Mutations in this gene can lead to cholestasis, which can be either acute or chronic. Benign Recurrent Intrahepatic Type 2 Cholestasis (BRIC2) is a rare genetic disorder that causes recurrent episodes of cholestasis.

Symptoms of BRIC2

The symptoms of BRIC2 can vary from person to person and may include:

• Jaundice
• Itching
• Fatigue
• Abdominal pain
• Nausea
• Vomiting

These symptoms may come and go, with periods of normal liver function in between episodes.

Diagnosis of BRIC2

Diagnosing BRIC2 can be challenging, as it is a rare condition and shares symptoms with other liver disorders. A doctor may order blood tests to check liver function and look for genetic mutations in the ABCB11 gene. A liver biopsy may also be necessary to confirm the diagnosis.

NGS Genetic DNA Test for BRIC2

Next-generation sequencing (NGS) is a genetic testing method that can detect mutations in the ABCB11 gene that cause BRIC2. This test can be performed using a blood sample or saliva sample. NGS testing is highly accurate and can detect mutations that may be missed by other genetic testing methods.

Cost of NGS Genetic DNA Test for BRIC2

The cost of NGS genetic testing for BRIC2 in India can range from INR 15,000 to INR 25,000, depending on the laboratory and testing method used. DNA Labs India offers NGS genetic testing for BRIC2 at a cost of INR 20,000.

Conclusion

BRIC2 is a rare genetic disorder that can cause recurrent episodes of cholestasis. Diagnosis can be challenging, but NGS genetic testing can accurately detect mutations in the ABCB11 gene that cause BRIC2. If you are experiencing symptoms of cholestasis, it is important to speak with your doctor about appropriate testing and treatment options.

Contact DNA Labs India to learn more about NGS genetic testing for BRIC2 and other genetic disorders.