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GPC6 Gene Omodysplasia type 1 NGS Genetic Test

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GPC6 Gene Omodysplasia type 1 NGS Genetic Test

Short Name: GPC6 Omodysplasia Type 1 Test

Also known as: GPC6-related omodysplasia, Omodysplasia type 1 genetic test

GPC6 Gene Omodysplasia type 1 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 TestAll 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

To diagnose Omodysplasia Type 1 by detecting mutations in the GPC6 gene using Next-Generation Sequencing, enabling early intervention and management of skeletal abnormalities.

Test Code
5078
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 review and genetic counseling session recommended to draw a pedigree chart of affected family members.

Method: Blood Draw or Saliva Collection

Step 2

Laboratory Analysis

Blood draw or saliva collection performed by a trained phlebotomist following standard procedures.

Step 3

Report Delivery

Sample is labeled, stored at ambient temperature, and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Non-invasive sample collection (blood or saliva) at home or lab facility.
3
After the Test:Wait for results (3-4 weeks), then follow up with healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

To diagnose Omodysplasia Type 1 by detecting mutations in the GPC6 gene using Next-Generation Sequencing, enabling early intervention and management of skeletal abnormalities.

How to Prepare

  • No fasting required
  • Provide detailed clinical history
  • Genetic counseling advised prior to testing
  • Ensure sample integrity during transport

Doctor's Notes

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

"Early genetic testing for skeletal disorders can guide management and family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of mutations in the GPC6 gene associated with Omodysplasia Type 1. Positive results confirm diagnosis, while negative results may require clinical correlation.
Positive: Mutation detected in GPC6 gene, consistent with Omodysplasia Type 1 diagnosis.
Negative: No pathogenic mutation detected, but clinical symptoms may warrant further evaluation.
Variant of Uncertain Significance (VUS): Genetic variant identified but not conclusively linked to disease; follow-up testing recommended.
⚠️ When to Consult a Doctor:

If symptoms of skeletal abnormalities are present, or if there is a family history of genetic disorders, consult a genetic counselor or healthcare provider for evaluation and testing.

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising)
  • ●Psychological impact of genetic results; counseling available

Frequently Asked Questions

What is Omodysplasia Type 1?
Omodysplasia Type 1 is a rare genetic disorder caused by mutations in the GPC6 gene, leading to severe skeletal abnormalities such as short stature and abnormal limb development.
What causes Omodysplasia Type 1?
It is caused by mutations in the GPC6 gene, which is inherited in an autosomal recessive pattern.
How is the GPC6 Gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood or saliva sample, detecting mutations in the GPC6 gene.
What are the symptoms of Omodysplasia Type 1?
Symptoms include short stature, abnormal limb and joint development, narrow chest, curved spine, delayed motor development, and difficulty breathing.
Is the test painful?
The test involves a simple blood draw or saliva collection, which may cause minimal discomfort but is generally not painful.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
Can the test detect all mutations?
NGS technology is highly accurate, but it may not detect all possible mutations; genetic counseling is recommended for interpretation.
What should I do if the test is positive?
A positive result confirms Omodysplasia Type 1; consult a genetic counselor or healthcare provider for management and family planning.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications, results, and next steps.
How accurate is the NGS test?
NGS testing is highly accurate for detecting genetic variations, but accuracy depends on sample quality and laboratory standards.
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

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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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