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DNA Labs India

SOST Gene Craniodiaphyseal dysplasia, autosomal dominant NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SOST Gene Craniodiaphyseal dysplasia, autosomal dominant NGS Genetic Test

Short Name: SOST Gene CDD NGS Test

Also known as: CDD Genetic Test, SOST Gene Mutation Analysis, Craniodiaphyseal Dysplasia NGS Test

SOST Gene Craniodiaphyseal dysplasia, autosomal dominant 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.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the SOST gene for confirming diagnosis of craniodiaphyseal dysplasia, guiding treatment decisions, and enabling genetic counseling for affected families.

Test Code
5732
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
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card blood drop by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Store samples as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss test implications and provide family history.
2
During the Test:Sample collection takes about 10-15 minutes. No pain beyond a needle prick.
3
After the Test:Resume normal activities. Await results in 3-4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the SOST gene for confirming diagnosis of craniodiaphyseal dysplasia, guiding treatment decisions, and enabling genetic counseling for affected families.

How to Prepare

  • Ensure proper labeling of samples
  • Use sterile collection tubes
  • Transport samples at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing is essential for early diagnosis and management of craniodiaphyseal dysplasia, especially in families with a history of bone disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled specimens

Understanding Your Results

Results indicate the presence or absence of pathogenic SOST gene mutations. Positive results confirm craniodiaphyseal dysplasia, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of craniodiaphyseal dysplasia. Genetic counseling recommended.

📊

Negative for pathogenic variant

No SOST gene mutation detected. Consider other genetic or clinical evaluations.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms persist, worsen, or if there is a family history of bone disorders.

Limitations

  • ⚠May not detect all rare variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a substitute for clinical diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestSOST Gene Craniodiaphyseal dysplasia, autosomal dominant NGS Genetic TestSOST Gene Deletion/Duplication AnalysisWhole Exome SequencingBone Dysplasia Genetic PanelSclerostin Level Test
ComparisonSOST Gene Craniodiaphyseal dysplasia, autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is SOST gene craniodiaphyseal dysplasia?
It is a rare genetic disorder caused by mutations in the SOST gene, leading to abnormal bone growth in the skull, face, and limbs.
What are the common symptoms?
Symptoms include thickened skull bones, jaw enlargement, hearing loss, vision problems, facial paralysis, spinal curvature, and limb shortening.
How is the diagnosis confirmed?
Diagnosis is confirmed through genetic testing using NGS technology to detect SOST gene mutations.
What is the cost of the SOST gene NGS test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home collection is offered across many cities in India for online bookings.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is there a cure for craniodiaphyseal dysplasia?
Currently, there is no cure. Treatment focuses on managing symptoms and preventing complications.
Who should consider this test?
Individuals with symptoms of craniodiaphyseal dysplasia or a family history of the disorder should consider testing.
What does a positive result mean?
A positive result confirms the presence of a pathogenic SOST gene mutation, indicating craniodiaphyseal dysplasia.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand implications and results.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising, but genetic results may have psychological impacts.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

LIMS Integration

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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