Short Description

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

PreTest Information

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

Detail Description

DNA Labs India: ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 NGS Genetic DNA Test

Cholestasis Progressive Intrahepatic Type 2 (PFIC2) is a rare genetic disease that affects the liver. It is caused by mutations in the ABCB11 gene. This gene provides instructions for making a protein called bile salt export pump (BSEP), which is responsible for transporting bile acids out of liver cells. When the ABCB11 gene is mutated, the BSEP protein is not produced correctly, resulting in a buildup of bile acids in liver cells. This buildup can lead to liver damage and other complications.

Symptoms of PFIC2

The symptoms of PFIC2 can vary from person to person, but they typically begin in infancy or early childhood. The most common symptoms include:

• Jaundice (yellowing of the skin and eyes)
• Itching
• Pale stools
• Enlarged liver and spleen
• Growth failure
• Osteoporosis
• Portal hypertension
• Liver failure

Diagnosis of PFIC2

Diagnosing PFIC2 can be challenging, as its symptoms can be similar to those of other liver disorders. However, genetic testing can confirm the diagnosis. The ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 NGS Genetic DNA Test is a highly accurate test that can identify mutations in the ABCB11 gene that cause PFIC2.

The ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 NGS Genetic DNA Test

The ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 NGS Genetic DNA Test is a next-generation sequencing (NGS) test that analyzes the entire ABCB11 gene. This test can identify mutations that cause PFIC2 with a high degree of accuracy.

The test is performed using a small blood sample, which is sent to a laboratory for analysis. Results are typically available within 2-3 weeks.

Cost of the Test

The cost of the ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 NGS Genetic DNA Test is INR 20,000.

Conclusion

PFIC2 is a rare genetic disorder that can cause serious liver damage and other complications. The ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 NGS Genetic DNA Test is a highly accurate test that can identify mutations in the ABCB11 gene that cause PFIC2. If you or a loved one is experiencing symptoms of PFIC2, speak to a healthcare provider about the possibility of genetic testing.

At DNA Labs India, we offer a wide range of genetic tests, including the ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 NGS Genetic DNA Test. Contact us today to learn more.