SOST Gene Sclerosteosis type 1 NGS Genetic Test
Short Name: SOST NGS
Also known as: SOST Gene Sequencing, Sclerosteosis Type 1 Genetic Test, SOST Mutation Analysis
SOST Gene Sclerosteosis type 1 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 Reports are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the SOST gene that cause sclerosteosis type 1. It aids in confirming a clinical diagnosis, identifying carriers, and enabling prenatal diagnosis in at-risk families. The test also helps differentiate sclerosteosis from other sclerosing bone dysplasias.
- Test Code
- 5916
- CPT Code
- 81408
- ICD Code
- Q78.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Avoid blood transfusion within 2 weeks prior to sample collection.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No special precautions. Resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the SOST gene that cause sclerosteosis type 1. It aids in confirming a clinical diagnosis, identifying carriers, and enabling prenatal diagnosis in at-risk families. The test also helps differentiate sclerosteosis from other sclerosing bone dysplasias.
How to Prepare
- For blood: Use EDTA tube, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the card, air dry for 30 minutes.
- Label the sample with patient name, date, and time of collection.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for SOST gene mutations is crucial for confirming sclerosteosis type 1 and guiding family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
No pathogenic variants detected
Sclerosteosis type 1 is unlikely; consider other diagnoses.
Heterozygous pathogenic variant
Carrier status; individual is unaffected but at risk of passing the mutation.
Homozygous or compound heterozygous pathogenic variants
Confirms diagnosis of sclerosteosis type 1.
Variant of uncertain significance (VUS)
Further family studies may be needed to clarify pathogenicity.
If you or a family member have symptoms suggestive of sclerosteosis or if you have a family history of the condition, consult a clinical geneticist for evaluation and testing.
Limitations
- ⚠NGS may not detect large deletions/duplications (requires MLPA)
- ⚠Variants of uncertain significance may be reported
- ⚠Test does not assess non-coding regulatory regions beyond standard coverage
Risks & Considerations
- ●Minimal risk of bruising at blood draw site
- ●Fainting or dizziness during blood collection (rare)
- ●Psychological impact of genetic results
Interfering Factors
- ●Contamination of sample during collection
- ●DNA degradation due to improper storage
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | SOST Gene Sclerosteosis type 1 NGS Genetic Test | LDLR Gene Sequencing | COL1A1/COL1A2 Sequencing | ALPL Gene Sequencing |
|---|---|---|---|---|
| Comparison | SOST Gene Sclerosteosis type 1 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the SOST gene sclerosteosis type 1 NGS test?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get results?
Is home sample collection available?
What does the test detect?
Who should consider this test?
Is genetic counselling included?
Can this test be done for prenatal diagnosis?
What is the accuracy of NGS testing?
Are there any risks associated with the test?
How do I book this 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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