HSD3B7 Gene Bile acid synthesis defect type 1, congenital NGS Genetic Test
Short Name: HSD3B7 Gene Test
Also known as: HSD3B7 deficiency, Bile acid synthesis defect type 1, Congenital bile acid synthesis defect
HSD3B7 Gene Bile acid synthesis defect type 1, congenital NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the HSD3B7 gene responsible for bile acid synthesis defect type 1, enabling accurate diagnosis, informing treatment decisions, facilitating genetic counseling, and allowing for early intervention to prevent liver complications.
- Test Code
- 4648
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. Provide clinical history and family pedigree information.
Method: Venipuncture or finger-prick for FTA card
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using standard venipuncture or a finger-prick for FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Keep the sample at ambient temperature for transport.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the HSD3B7 gene responsible for bile acid synthesis defect type 1, enabling accurate diagnosis, informing treatment decisions, facilitating genetic counseling, and allowing for early intervention to prevent liver complications.
How to Prepare
- Ensure patient identification is correct
- Use sterile collection equipment
- Label samples accurately
- Transport samples to the lab within 24 hours
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic testing for HSD3B7 deficiency is crucial for timely intervention, preventing liver damage, and guiding treatment in bile acid synthesis defects."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms HSD3B7 deficiency; initiate treatment and genetic counseling.
Negative for pathogenic variant
No mutations detected; consider other causes of symptoms and repeat testing if clinically indicated.
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance unknown; recommend family studies and follow-up.
Consult a geneticist or hepatologist if symptoms persist, worsen, or if there is a family history of metabolic disorders. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising or pain at puncture site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Improper sample storage or handling
- ●Recent blood transfusion may affect DNA quality
Compare With Similar Tests
| Test | HSD3B7 Gene Bile acid synthesis defect type 1, congenital NGS Genetic Test | Bile Acid Measurement in Blood | Liver Biopsy | Other Genetic Panels |
|---|---|---|---|---|
| Comparison | HSD3B7 Gene Bile acid synthesis defect type 1, congenital NGS Genetic Test |
Frequently Asked Questions
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