CYP7B1 Gene Bile acid synthesis defect type 3, congenital NGS Genetic Test
Short Name: CYP7B1 Bile Acid Synthesis Defect Type 3 NGS Test
Also known as: CYP7B1 deficiency, Congenital bile acid synthesis defect type 3, CYP7B1 gene mutation test
CYP7B1 Gene Bile acid synthesis defect type 3, congenital 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 diagnose CYP7B1 gene bile acid synthesis defect type 3 by detecting mutations in the CYP7B1 gene using NGS technology, enabling accurate diagnosis, genetic counseling, and appropriate management.
- Test Code
- 4644
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with bile acid synthesis defect type 3.
Method: Venipuncture or finger-prick
Laboratory Analysis
Standard blood collection via venipuncture or finger-prick for FTA card.
Report Delivery
Apply pressure to the puncture site; store samples as per instructions.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose CYP7B1 gene bile acid synthesis defect type 3 by detecting mutations in the CYP7B1 gene using NGS technology, enabling accurate diagnosis, genetic counseling, and appropriate management.
How to Prepare
- Provide detailed clinical history
- Attend genetic counseling session
- Ensure sample is collected in appropriate container
- Label samples correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis in infants with jaundice or liver issues, and for family planning in affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of CYP7B1 bile acid synthesis defect type 3. Genetic counseling and treatment recommended.
No pathogenic variant detected
Unlikely to have the disorder based on this gene, but clinical correlation is advised.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor if symptoms like jaundice, fatigue, or abdominal pain persist, or if there is a family history of bile acid synthesis disorders.
Limitations
- ⚠May not detect all possible mutations or variants of uncertain significance
- ⚠Requires genetic counseling for interpretation
- ⚠Not a standalone diagnostic tool; clinical correlation is needed
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood samples
Frequently Asked Questions
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