HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic Test
Short Name: HSD17B10 Gene Deficiency NGS Test
Also known as: HSD10 disease, 17-beta hydroxysteroid dehydrogenase X deficiency, HSD17B10-related disorder
HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic variants in the HSD17B10 gene to confirm a diagnosis of HSD10 disease, guide clinical management, facilitate genetic counseling, and support family planning decisions.
- Test Code
- 5359
- 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 is required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture for blood samples
Laboratory Analysis
A blood sample will be collected via venipuncture by a trained phlebotomist. For FTA card, a finger-prick blood drop is used.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples as instructed for stability.
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 pathogenic variants in the HSD17B10 gene to confirm a diagnosis of HSD10 disease, guide clinical management, facilitate genetic counseling, and support family planning decisions.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples accurately
- Transport samples at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for HSD17B10 mutations is crucial for timely intervention and family planning in affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive
Pathogenic variant(s) detected, confirming HSD10 disease diagnosis. Clinical correlation and genetic counseling recommended.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; further evaluation may be needed.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Monitoring and family studies may be advised.
Consult a doctor if experiencing symptoms of HSD10 disease, for genetic counseling after a positive test result, or for family planning if there is a known family history.
Limitations
- ⚠May not detect all types of genetic variations (e.g., large deletions/duplications)
- ⚠Results require clinical correlation and genetic counseling
- ⚠Variant of uncertain significance (VUS) may be identified
Risks & Considerations
- ●Minimal risks from blood draw: bruising, soreness, or rare infection
- ●Psychological impact of genetic results; counseling provided
Interfering Factors
- ●Degraded or insufficient DNA sample quality
- ●Contamination during sample processing
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic Test | Sanger Sequencing | Whole Exome Sequencing | Metabolic Screening Panel | Chromosomal Microarray |
|---|---|---|---|---|---|
| Comparison | HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic Test |
Frequently Asked Questions
What is HSD10 disease?
What are the common symptoms of HSD17B10 gene deficiency?
How is HSD10 disease diagnosed?
What is the cost of the HSD17B10 Gene NGS Genetic Test in India?
Is the test covered by insurance?
What sample types are accepted for this test?
How long does it take to get the test results?
Is home sample collection available?
What should I do before getting tested?
Can this test detect all mutations in the HSD17B10 gene?
What if the test result is positive?
Are there any risks associated with the test?
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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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