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B3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 NGS Genetic Test

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B3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 NGS Genetic Test

Short Name: B3GALT6 EDS Progeroid Type 2 NGS Test

Also known as: Progeroid Ehlers-Danlos Syndrome Type 2, B3GALT6-related EDS

B3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 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.

NGS Genetic Test🏠 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 B3GALT6 gene for definitive diagnosis of Ehlers-Danlos Syndrome, Progeroid Type, Type 2, aiding in clinical management and genetic counseling.

Test Code
4923
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis; report delivered in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review required.
2
During the Test:Blood sample collection via standard venipuncture.
3
After the Test:Sample processed for NGS; report generated and delivered.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the B3GALT6 gene for definitive diagnosis of Ehlers-Danlos Syndrome, Progeroid Type, Type 2, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure patient is relaxed and hydrated
  • Use sterile equipment for blood draw
  • Label sample correctly with patient details
  • Store sample at ambient room temperature if using FTA card

Doctor's Notes

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

"This NGS test is essential for confirming diagnosis in patients with symptoms of Progeroid EDS Type 2, enabling early management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card application

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card samples stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate presence or absence of pathogenic variants in the B3GALT6 gene. Positive results confirm diagnosis of Progeroid EDS Type 2.
Positive: Pathogenic variant detected, consistent with diagnosis
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of uncertain significance: Requires further evaluation
⚠️ When to Consult a Doctor:

Consult a genetic specialist if symptoms persist, test is positive, or for family planning advice.

Limitations

  • ⚠May not detect all possible mutations in the B3GALT6 gene
  • ⚠Requires interpretation by a genetic specialist
  • ⚠Results should be correlated with clinical symptoms

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage

Compare With Similar Tests

TestB3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 NGS Genetic TestCOL5A1 Gene EDS TestCOL3A1 Gene Vascular EDS TestTNXB Gene EDS Test
ComparisonB3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 NGS Genetic Test

Frequently Asked Questions

What is the B3GALT6 Gene Ehlers-Danlos Syndrome, Progeroid Type, Type 2 NGS Genetic Test?
It is a genetic test using Next-Generation Sequencing to identify mutations in the B3GALT6 gene, which causes a rare subtype of Ehlers-Danlos Syndrome known as Progeroid Type 2.
What are the symptoms of Progeroid EDS Type 2?
Symptoms include hyperelastic skin, joint hypermobility, premature aging, short stature, fine sparse hair, small jaw, thin lips, small nose, thin transparent skin, and severe bruising.
How is this test performed?
The test involves collecting a blood sample or DNA, which is analyzed using NGS technology to detect mutations in the B3GALT6 gene.
What is the cost of this test in India?
The test costs INR 20,000, with free home sample collection available across India.
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 sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
What should I do before the test?
Provide clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.
How accurate is this NGS test?
NGS is a highly accurate and efficient method for genetic testing, but results should be interpreted by a genetic specialist.
Can this test be used for family planning?
Yes, genetic counseling post-test can help with family planning and understanding inheritance patterns.
What if the test result is positive?
A positive result confirms diagnosis, and you should consult a healthcare provider for management and genetic counseling.
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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