ATP8B1 Gene Cholestasis, benign recurrent intrahepatic NGS Genetic Test
Short Name: ATP8B1 BRIC NGS Test
Also known as: Benign Recurrent Intrahepatic Cholestasis, BRIC
ATP8B1 Gene Cholestasis, benign recurrent intrahepatic NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the ATP8B1 gene to confirm a diagnosis of Benign Recurrent Intrahepatic Cholestasis (BRIC), assess carrier status in family members, and guide clinical management and genetic counseling.
- Test Code
- 1923
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history and undergo genetic counseling to understand the test implications.
Method: Venipuncture or Blood Drop
Laboratory Analysis
Blood sample will be drawn via venipuncture or a blood drop collected on an FTA card.
Report Delivery
Apply pressure to the site to stop bleeding; sample will be processed for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the ATP8B1 gene to confirm a diagnosis of Benign Recurrent Intrahepatic Cholestasis (BRIC), assess carrier status in family members, and guide clinical management and genetic counseling.
How to Prepare
- Ensure proper identification of the patient
- Use sterile techniques for blood collection
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for ATP8B1 mutations is essential for confirming BRIC diagnosis and guiding family risk assessment. Consult a healthcare provider for personalized management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Samples with insufficient volume or poor labeling
- Contaminated samples or improper storage conditions
Understanding Your Results
Mutation Detected
Confirms diagnosis of ATP8B1-related BRIC; recommend genetic counseling and family screening.
No Mutation Detected
Genetic cause unlikely; consider other diagnostic tests for cholestasis.
Variant of Uncertain Significance
Further clinical correlation and family studies needed; consult genetic counselor.
Consult a healthcare provider if experiencing recurrent jaundice, itching, or other symptoms of cholestasis, or if there is a family history of liver disease for appropriate testing and management.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Results require interpretation by a genetic counselor or clinical geneticist
- ⚠Not all mutations are fully characterized in medical literature
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or excessive bleeding
Interfering Factors
- ●Degraded or hemolyzed blood samples
- ●Insufficient DNA quantity or quality
- ●Contamination during sample collection or processing
Frequently Asked Questions
What is ATP8B1 Gene Cholestasis?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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