Short Description

NGS genetic DNA test detecets for variant and mutation detection in NR1H4 gene for Cholestasis, infantile, NR1H4 related

PreTest Information

Clinical History of Patient who is going for NR1H4 Gene Cholestasis, infantile, NR1H4 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NR1H4 Gene Cholestasis, infantile, NR1H4 related NGS Genetic DNA Test gene NR1H4

Detail Description

Understanding NR1H4 Gene Cholestasis in Infants: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

NR1H4 gene cholestasis is a rare genetic disorder that affects the liver and bile ducts in infants. This disorder is caused by mutations in the NR1H4 gene, which is responsible for producing a protein called farnesoid X receptor (FXR). FXR plays a crucial role in regulating bile acid metabolism and transport in the liver. Mutations in the NR1H4 gene can disrupt the normal function of FXR, leading to the buildup of bile acids in the liver and bile ducts, and causing liver damage.

Symptoms of NR1H4 Gene Cholestasis

The symptoms of NR1H4 gene cholestasis usually appear in infancy, typically within the first few months of life. The common symptoms include:

• Jaundice (yellowing of the skin and eyes)
• Pale stools
• Dark urine
• Enlarged liver and spleen
• Poor weight gain
• Itching

These symptoms can vary in severity and may worsen over time if left untreated.

Diagnosis of NR1H4 Gene Cholestasis

NR1H4 gene cholestasis is diagnosed through a combination of clinical symptoms, blood tests, imaging studies, and genetic testing. Blood tests may show elevated levels of liver enzymes and bile acids. Imaging studies such as ultrasound, CT scan, or MRI may reveal signs of liver damage and bile duct abnormalities. Genetic testing is the most definitive way to diagnose NR1H4 gene cholestasis. This involves analyzing the DNA sequence of the NR1H4 gene to identify any mutations or variations that may cause the disorder.

NGS Genetic DNA Test Cost for NR1H4 Gene Cholestasis in India

Next-generation sequencing (NGS) is a powerful genetic testing technology that can analyze multiple genes simultaneously and provide more comprehensive and accurate results. NGS genetic testing for NR1H4 gene cholestasis is available in India and can cost around INR 20,000. This test can detect mutations in the NR1H4 gene and other genes associated with liver diseases, enabling early and accurate diagnosis of NR1H4 gene cholestasis and other related disorders.

Conclusion

NR1H4 gene cholestasis is a rare but serious genetic disorder that affects infants' liver and bile ducts. Early detection and diagnosis are crucial for better outcomes. If your infant shows any symptoms of liver disease, consult a healthcare professional immediately. Genetic testing, including NGS testing, can provide accurate and timely diagnosis and help in developing appropriate treatment plans.

At DNA Labs India, we offer comprehensive genetic testing services, including NGS testing, to diagnose NR1H4 gene cholestasis and other genetic disorders. Our experienced team of genetic counselors and scientists can guide you through the testing process and provide personalized recommendations based on your test results. Contact us today to learn more!