Short Description

NGS genetic DNA test detecets for variant and mutation detection in AKR1D1 gene for Bile acid synthesis defect type 2, congenital

PreTest Information

Clinical History of Patient who is going for AKR1D1 Gene Bile acid synthesis defect type 2, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Bile acid synthesis defect type 2, congenital

Detail Description

AKR1D1 Gene Bile Acid Synthesis Defect Type 2: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

AKR1D1 Gene Bile Acid Synthesis Defect Type 2 is a rare genetic disorder that affects the production of bile acids in the liver. This disorder is caused by mutations in the AKR1D1 gene, which is responsible for producing an enzyme that is essential for bile acid synthesis. Bile acids play a crucial role in the digestion and absorption of fats, vitamins, and other nutrients.

Symptoms of AKR1D1 Gene Bile Acid Synthesis Defect Type 2

The symptoms of AKR1D1 Gene Bile Acid Synthesis Defect Type 2 can vary widely from person to person. Some individuals may experience severe symptoms, while others may have mild or no symptoms at all. Common symptoms of this disorder include:

• Jaundice
• Poor growth and weight gain
• Abdominal pain
• Cholestasis
• Steatorrhea
• Diarrhea
• Fatigue

If left untreated, AKR1D1 Gene Bile Acid Synthesis Defect Type 2 can lead to serious complications such as liver damage and cirrhosis.

Diagnosis of AKR1D1 Gene Bile Acid Synthesis Defect Type 2

Diagnosing AKR1D1 Gene Bile Acid Synthesis Defect Type 2 can be challenging because the symptoms of this disorder can be similar to other liver diseases. However, there are several tests that can help diagnose this disorder, including:

• Blood tests to check liver function
• Ultrasound or MRI of the liver
• Liver biopsy
• Genetic testing

Genetic testing is the most accurate way to diagnose AKR1D1 Gene Bile Acid Synthesis Defect Type 2. This test involves analyzing a sample of the patient's DNA to look for mutations in the AKR1D1 gene.

NGS Genetic DNA Test Cost in India

The cost of NGS Genetic DNA testing for AKR1D1 Gene Bile Acid Synthesis Defect Type 2 in India can vary depending on the laboratory and the specific test ordered. On average, the cost of this test is around INR 20,000.

It is important to note that genetic testing is not always covered by insurance, so patients should check with their insurance provider before undergoing testing.

Conclusion

AKR1D1 Gene Bile Acid Synthesis Defect Type 2 is a rare genetic disorder that can cause serious complications if left untreated. Symptoms of this disorder can vary widely, and genetic testing is the most accurate way to diagnose it. The cost of NGS Genetic DNA testing for AKR1D1 Gene Bile Acid Synthesis Defect Type 2 in India is around INR 20,000. Patients should consult with their doctor to determine if genetic testing is appropriate for them.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA testing for AKR1D1 Gene Bile Acid Synthesis Defect Type 2. Our team of experts is dedicated to providing accurate and timely results to help patients and their families make informed decisions about their health. Contact us today to learn more.