HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test
Short Name: HSD3B2 NGS Genetic Test
Also known as: HSD3B2 deficiency, 3β-HSD deficiency type 2, 3-beta-HSD2 deficiency
HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 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 the HSD3B2 Gene NGS Genetic Test is to detect pathogenic mutations in the HSD3B2 gene for the diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency type 2. This test aids in confirming clinical suspicion, guiding treatment decisions, identifying carriers, and facilitating genetic counseling for affected families.
- Test Code
- 4618
- 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
A genetic counseling session is recommended to discuss the test, draw a pedigree chart, and obtain informed consent. Provide clinical history of the patient.
Method: Venipuncture or FTA Card
Laboratory Analysis
Sample collection involves a simple blood draw or using an FTA card for one drop of blood. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the collection site to prevent bruising. Store the sample as instructed and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the HSD3B2 Gene NGS Genetic Test is to detect pathogenic mutations in the HSD3B2 gene for the diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency type 2. This test aids in confirming clinical suspicion, guiding treatment decisions, identifying carriers, and facilitating genetic counseling for affected families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label the sample correctly with patient details
- Follow transport guidelines for sample stability
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for HSD3B2 mutations can guide timely intervention for hormonal imbalances and prevent complications in affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency type 2. Genetic counseling and endocrine evaluation recommended.
Negative for pathogenic variant
No mutations detected in the HSD3B2 gene. Clinical correlation is advised if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor if you experience symptoms such as delayed growth, early puberty, hormonal imbalances, or have a family history of the disorder. After receiving test results, seek guidance from an endocrinologist or geneticist for management.
Limitations
- ⚠May not detect all possible mutations or variants of uncertain significance
- ⚠Results should be correlated with clinical findings and family history
- ⚠Does not rule out other genetic or non-genetic causes of similar symptoms
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the site
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Poor sample quality or contamination
- ●Recent blood transfusions may affect DNA analysis
- ●Improper sample storage or handling
Frequently Asked Questions
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₹20,000Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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