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PLOD1 Gene Ehlers-Danlos syndrome type 6 NGS Genetic Test

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PLOD1 Gene Ehlers-Danlos syndrome type 6 NGS Genetic Test

PLOD1 Gene Ehlers-Danlos syndrome type 6 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the PLOD1 gene to diagnose Ehlers-Danlos Syndrome Type 6, a connective tissue disorder. It helps in confirming clinical suspicion, guiding treatment strategies, and providing genetic counseling for affected individuals and families.

Test Code
4916
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

Genetic counseling session recommended. Provide clinical history and family pedigree.

Step 2

Laboratory Analysis

Standard blood draw procedure.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample sent to lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent.
2
During the Test:Blood sample collection.
3
After the Test:Wait for results and follow-up with genetic counselor.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the PLOD1 gene to diagnose Ehlers-Danlos Syndrome Type 6, a connective tissue disorder. It helps in confirming clinical suspicion, guiding treatment strategies, and providing genetic counseling for affected individuals and families.

How to Prepare

  • No fasting required unless specified by physician.
  • Avoid strenuous activity before collection.
  • Bring identification and prescription if available.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results are interpreted based on the presence or absence of mutations in the PLOD1 gene. Genetic counseling is essential to understand the implications for diagnosis and management.
No mutation detected: Low likelihood of EDS Type 6, but clinical correlation needed.
Pathogenic variant detected: Confirms diagnosis of EDS Type 6.
Variant of uncertain significance: Further testing or family studies may be required.
⚠️ When to Consult a Doctor:

If you experience symptoms such as joint hypermobility, skin fragility, or have a family history of EDS, consult a geneticist or dermatologist for evaluation.

Risks & Considerations

  • ●Psychological impact of genetic diagnosis.
  • ●Privacy concerns with genetic data.
  • ●No physical risks from blood draw.

Frequently Asked Questions

What is the PLOD1 Gene EDS Type 6 NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the PLOD1 gene, which causes Ehlers-Danlos Syndrome Type 6, a connective tissue disorder.
Why is this test recommended?
It is recommended for individuals with symptoms of EDS Type 6, such as joint hypermobility and skin fragility, or for those with a family history of the condition.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the PLOD1 gene for mutations.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required for this test?
No, fasting is not required unless specified by your physician.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate whether pathogenic mutations in the PLOD1 gene are detected, which can confirm or rule out EDS Type 6. Genetic counseling is advised for interpretation.
Is the test covered by insurance?
Coverage depends on your insurance plan. It is not typically covered under government schemes like PMJAY or CGHS without specific approval.
Can I get home sample collection?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What are the symptoms of EDS Type 6?
Symptoms include joint hypermobility, fragile and stretchy skin, easy bruising, poor wound healing, thin blood vessels, and organ prolapse.
How accurate is the test?
NGS technology provides high accuracy in detecting genetic mutations, but results should be correlated with clinical findings and genetic counseling.
What should I do after getting the results?
Consult a geneticist or healthcare provider to discuss results, management options, and implications for family members.
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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