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TGFB1 Gene Camurati-Engelmann disease NGS Genetic Test

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TGFB1 Gene Camurati-Engelmann disease NGS Genetic Test

Short Name: TGFB1 CED NGS Test

Also known as: Progressive Diaphyseal Dysplasia, CED

TGFB1 Gene Camurati-Engelmann disease 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. Free home collection in 300+ cities across India.

Next-Generation SequencingAll 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

The purpose of this test is to diagnose Camurati-Engelmann disease by detecting pathogenic mutations in the TGFB1 gene, enabling early intervention and personalized management strategies.

Test Code
5690
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Ensure proper identification and consent.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or finger prick.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store samples as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor for pre-test counseling and to discuss implications.
2
During the Test:Sample collection and analysis in the laboratory using NGS technology.
3
After the Test:Receive reports and discuss results with a healthcare provider for next steps.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Camurati-Engelmann disease by detecting pathogenic mutations in the TGFB1 gene, enabling early intervention and personalized management strategies.

How to Prepare

  • Verify patient identity
  • Use sterile collection equipment
  • Label samples with patient details
  • Transport samples at ambient temperature

Doctor's Notes

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

"Early genetic testing for Camurati-Engelmann disease can guide management and family planning, especially in cases with a family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for up to 1 week at 4°C
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the TGFB1 gene associated with Camurati-Engelmann disease. Positive results confirm diagnosis, while negative results may require further evaluation.
📊

Positive for pathogenic variant

Diagnosis of Camurati-Engelmann disease is likely. Consult a geneticist for management and family counseling.

📊

Negative for pathogenic variant

Camurati-Engelmann disease is unlikely based on this test. Consider other diagnoses or additional genetic testing.

📊

Variant of uncertain significance

Further testing or family studies may be needed. Genetic counseling is recommended.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist, if there is a family history of bone disorders, or if genetic counseling is needed for result interpretation.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Technical errors in sequencing
  • ●Insufficient DNA yield

Compare With Similar Tests

TestTGFB1 Gene Camurati-Engelmann disease NGS Genetic Test
ComparisonTGFB1 Gene Camurati-Engelmann disease NGS Genetic Test

Frequently Asked Questions

What is Camurati-Engelmann disease?
Camurati-Engelmann disease is a rare genetic disorder that affects bone growth and remodeling, caused by mutations in the TGFB1 gene.
What are the symptoms of Camurati-Engelmann disease?
Symptoms include chronic muscle pain, weakness, fatigue, difficulty walking, bone fractures, delayed puberty, and vision or hearing problems.
How is the TGFB1 Gene NGS Genetic Test performed?
The test uses next-generation sequencing to analyze DNA from a blood sample or extracted DNA to identify mutations in the TGFB1 gene.
What is the cost of the test?
The cost is INR 20,000, which includes home sample collection across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for the test?
No, fasting is not required for this genetic test.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the TGFB1 gene, confirming a diagnosis of Camurati-Engelmann disease.
What if the result is negative?
A negative result suggests Camurati-Engelmann disease is unlikely, but further evaluation may be needed if symptoms persist.
Is genetic counseling available?
Yes, genetic counseling is recommended before and after testing to discuss implications and results.
Can the test be done at home?
Yes, free home sample collection is available for online bookings in many cities across India.
Is the test suitable for children?
Yes, the test is suitable for individuals of all ages, including children, as indicated by the pediatric test type.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations, but it may not identify all types of genetic variations. Consult a geneticist for interpretation.
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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