Short Description

NGS genetic DNA test detecets for variant and mutation detection in AMACR gene for Bile acid synthesis defect type 4, congenital

PreTest Information

Clinical History of Patient who is going for AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Bile acid synthesis defect type 4, congenital

Detail Description

AMACR Gene Bile Acid Synthesis Defect Type 4: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

AMACR gene bile acid synthesis defect type 4 is a rare genetic disorder that affects the synthesis of bile acid. It is a congenital disorder that is caused by mutations in the AMACR gene. This gene is responsible for the production of an enzyme that is involved in the synthesis of bile acid in the liver.

Symptoms of AMACR gene bile acid synthesis defect type 4 may include:

• Jaundice
• Pale stools
• Dark urine
• Itching
• Abdominal pain
• Failure to thrive

If left untreated, this condition can lead to liver failure, cirrhosis, and other serious complications. Therefore, it is important to get a proper diagnosis and treatment as soon as possible.

Diagnosis of AMACR Gene Bile Acid Synthesis Defect Type 4

The diagnosis of AMACR gene bile acid synthesis defect type 4 is usually made through a combination of clinical evaluation, laboratory tests, and genetic testing.

During the clinical evaluation, your doctor will ask about your symptoms and medical history. They may also perform a physical exam to check for signs of liver disease.

Laboratory tests may include:

• Blood tests to check liver function
• Urine tests to check for bilirubin levels
• Stool tests to check for the presence of bile

Genetic testing may be recommended to confirm the diagnosis and identify the specific mutation in the AMACR gene. This can be done through a Next-Generation Sequencing (NGS) genetic DNA test.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test for AMACR gene bile acid synthesis defect type 4 in India may vary depending on the laboratory and location. However, the average cost is around INR 20,000.

This test is usually covered by health insurance if it is deemed medically necessary. It is important to check with your insurance provider to see if they cover genetic testing.

Conclusion

If you or a loved one is experiencing symptoms of AMACR gene bile acid synthesis defect type 4, it is important to seek medical attention as soon as possible. A proper diagnosis and treatment can help prevent serious complications and improve quality of life.

An NGS genetic DNA test may be recommended to confirm the diagnosis and identify the specific mutation in the AMACR gene. The cost of this test in India is around INR 20,000, and it may be covered by health insurance if deemed medically necessary.

At DNA Labs India, we offer a range of genetic testing services to help diagnose and treat genetic disorders. Contact us today to learn more.