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B4GALT7 Gene Ehlers-Danlos syndrome, progeroid type 1 NGS Genetic Test

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B4GALT7 Gene Ehlers-Danlos syndrome, progeroid type 1 NGS Genetic Test

Short Name: B4GALT7 Gene EDS Progeroid Type 1 NGS Test

Also known as: Progeroid Ehlers-Danlos syndrome type 1, B4GALT7-related EDS

B4GALT7 Gene Ehlers-Danlos syndrome, progeroid 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 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 diagnose Ehlers-Danlos syndrome, progeroid type 1 by detecting pathogenic mutations in the B4GALT7 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
4926
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

Clinical history review and genetic counseling recommended to understand test implications.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection using FTA card for DNA preservation.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test purpose, implications, and obtain informed consent.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation, delivery, and follow-up consultation with a healthcare provider.

About This Test

Who Should Get This Test

To diagnose Ehlers-Danlos syndrome, progeroid type 1 by detecting pathogenic mutations in the B4GALT7 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Follow aseptic techniques to avoid contamination
  • Use provided collection kits for FTA card samples

Doctor's Notes

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

"Genetic testing for B4GALT7 mutations is crucial for confirming diagnosis and guiding management in suspected cases of progeroid Ehlers-Danlos syndrome."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for up to 24 hours
FTA card samples stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the B4GALT7 gene, which are associated with Ehlers-Danlos syndrome, progeroid type 1.
📊

Pathogenic variant detected

Confirms diagnosis of Ehlers-Danlos syndrome, progeroid type 1; genetic counseling recommended for management and family planning.

📊

No pathogenic variant detected

Does not rule out other forms of Ehlers-Danlos syndrome or related disorders; clinical correlation and further testing may be needed.

⚠️ When to Consult a Doctor:

If symptoms such as premature aging, joint hypermobility, or skin abnormalities are present, or if there is a family history of connective tissue disorders.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results on patient and family

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors in sequencing

Frequently Asked Questions

What is the B4GALT7 Gene Ehlers-Danlos Syndrome, Progeroid Type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the B4GALT7 gene for mutations causing Ehlers-Danlos syndrome, progeroid type 1, a rare connective tissue disorder.
What are the symptoms of Ehlers-Danlos syndrome, progeroid type 1?
Symptoms include thin, translucent skin, hypermobile joints, premature aging, short stature, fragile blood vessels, and possible developmental delays.
How is this test performed?
The test is performed using a blood or saliva sample, which is analyzed via NGS technology to detect mutations in the B4GALT7 gene.
What is the cost of the test?
The cost at DNA Labs India is INR 20000, which includes sample collection, testing, and report generation.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
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 the presence of a pathogenic variant in the B4GALT7 gene, confirming a diagnosis of Ehlers-Danlos syndrome, progeroid type 1.
What if no mutations are found?
A negative result does not completely rule out the condition, as other genes or mutations may be involved; further clinical evaluation is recommended.
Is genetic counseling required before the test?
Yes, genetic counseling is recommended to understand the test implications, results, and for informed consent.
Can this test be done for children?
Yes, the test can be performed on individuals of all ages, including children, with appropriate consent and counseling.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy; it is advisable to check with your insurer directly.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting genetic mutations, but accuracy may vary based on sample quality and technical factors.
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

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