Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP7B1 gene for Bile acid synthesis defect type 3, congenital

PreTest Information

Clinical History of Patient who is going for CYP7B1 Gene Bile acid synthesis defect type 3, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Bile acid synthesis defect type 3, congenital

Detail Description

CYP7B1 Gene Bile Acid Synthesis Defect Type 3: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost at DNA Labs India

CYP7B1 gene bile acid synthesis defect type 3 is a rare genetic disorder that affects the liver's ability to produce bile acids. The condition is caused by a mutation in the CYP7B1 gene, which plays a crucial role in bile acid synthesis. Bile acids are essential for digestion and the absorption of fats and fat-soluble vitamins. When the liver cannot produce enough bile acids, it can lead to a range of symptoms and complications.

Symptoms of CYP7B1 Gene Bile Acid Synthesis Defect Type 3

The symptoms of CYP7B1 gene bile acid synthesis defect type 3 can vary widely from person to person. Some people may have mild symptoms, while others may have severe symptoms. The most common symptoms include:

• Jaundice
• Fatigue
• Abdominal pain
• Itching
• Pale stools
• Dark urine

In severe cases, the condition can lead to liver failure and other complications.

Diagnosis of CYP7B1 Gene Bile Acid Synthesis Defect Type 3

The diagnosis of CYP7B1 gene bile acid synthesis defect type 3 is typically made through genetic testing. This involves analyzing a person's DNA to look for mutations in the CYP7B1 gene. Other tests may also be done to evaluate liver function and rule out other conditions that can cause similar symptoms.

NGS Genetic DNA Test Cost at DNA Labs India

NGS genetic DNA testing is a type of genetic testing that uses next-generation sequencing technology to analyze a person's DNA. This type of testing can be used to diagnose a wide range of genetic disorders, including CYP7B1 gene bile acid synthesis defect type 3.

The cost of NGS genetic DNA testing at DNA Labs India is INR 20,000. This includes the cost of the test itself, as well as any counseling and support that may be needed.

Conclusion

CYP7B1 gene bile acid synthesis defect type 3 is a rare genetic disorder that can cause a range of symptoms and complications. If you or a loved one is experiencing symptoms of this condition, it is important to seek medical attention and consider genetic testing. NGS genetic DNA testing at DNA Labs India can provide an accurate diagnosis and help guide treatment and management of the condition.

For more information about NGS genetic DNA testing at DNA Labs India, please visit our website or contact us directly.