Skip to main content
DNA Labs India

SQSTM1 Gene Paget disease of bone NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SQSTM1 Gene Paget disease of bone NGS Genetic Test

Short Name: SQSTM1 Gene Test

Also known as: Paget Disease Genetic Test, SQSTM1 Mutation Analysis

SQSTM1 Gene Paget disease of bone 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.

NGS Genetic TestAdults🏠 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 mutations in the SQSTM1 gene that cause Paget disease of bone, aiding in diagnosis, risk assessment, and management of the condition.

Test Code
5099
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

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with Paget disease of bone.

Method: Blood Draw

Step 2

Laboratory Analysis

Standard blood draw procedure; minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding; keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before testing.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Results are delivered in 3-4 weeks; follow-up with a genetic counselor is recommended.

About This Test

Who Should Get This Test

To identify mutations in the SQSTM1 gene that cause Paget disease of bone, aiding in diagnosis, risk assessment, and management of the condition.

How to Prepare

  • Use sterile equipment
  • Label samples correctly
  • Transport at ambient room temperature

Doctor's Notes

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

"Genetic testing for SQSTM1 mutations is crucial for early diagnosis and personalized management of Paget disease of bone, especially in families with a history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw

Sample Stability

Blood: stable for 48 hours at room temperature
Extracted DNA: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the SQSTM1 gene. A positive result confirms a genetic predisposition to Paget disease of bone, while a negative result suggests no known pathogenic variants in this gene.
📊

Positive for SQSTM1 mutation

Confirms genetic cause of Paget disease; recommend clinical evaluation and family screening.

📊

Negative for SQSTM1 mutation

No pathogenic variant detected; consider other genetic or environmental factors if symptoms persist.

📊

Variant of uncertain significance

Further testing or clinical correlation may be needed; consult genetic counselor.

⚠️ When to Consult a Doctor:

If you experience symptoms like bone pain, deformities, or have a family history of Paget disease, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠Test may not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Not a substitute for clinical diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is the SQSTM1 Gene Paget Disease NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the SQSTM1 gene associated with Paget disease of bone.
Who should consider this test?
Individuals with symptoms of Paget disease, a family history of the condition, or those seeking genetic risk assessment.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, which includes genetic counseling.
How is the sample collected?
A blood sample is collected via venipuncture, or extracted DNA or a blood drop on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a mutation in the SQSTM1 gene, confirming a genetic predisposition to Paget disease of bone.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
Is the test accurate?
Yes, NGS technology provides high accuracy and reliability in detecting genetic mutations.
What should I do after receiving results?
Consult with a genetic counselor or healthcare provider to understand the results and discuss management options.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, but genetic results may have psychological implications.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider for details.
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.

Related Tests

WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 3 NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

₹20,000

EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

₹20,000

COL11A1 Gene Marshall syndrome NGS Genetic Test

₹20,000

ACTN3 (Sports Gene) Genotyping Test

₹7,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.