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GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic Test

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GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic Test

Short Name: GGCX Gene PXE-like Disorder Test

Also known as: PXE-like disorder with coagulation factor deficiency, GGCX gene disorder

GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify pathogenic variants in the GGCX gene for accurate diagnosis of Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, facilitating personalized treatment and genetic counseling.

Test Code
5115
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 of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Sample collection via venipuncture or using an FTA card with one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; store samples as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Clinical history review and genetic counseling are essential before testing.
2
During the Test:Sample collection is quick and minimally invasive.
3
After the Test:Results are available in 3-4 weeks; follow-up with a geneticist is recommended.

About This Test

Who Should Get This Test

To identify pathogenic variants in the GGCX gene for accurate diagnosis of Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, facilitating personalized treatment and genetic counseling.

How to Prepare

  • Provide clinical history
  • Attend genetic counseling session
  • Ensure proper sample labeling

Doctor's Notes

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

"This test is essential for diagnosing rare genetic disorders affecting skin integrity and coagulation, enabling targeted management and family counseling."

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

Understanding Your Results

Results are interpreted based on the presence of pathogenic variants in the GGCX gene, correlating with clinical symptoms.
📊

Positive for pathogenic variants

Confirms diagnosis of GGCX gene disorder; consider treatment and family screening.

📊

Negative for pathogenic variants

No variants detected; symptoms may be due to other causes; further evaluation recommended.

📊

Variant of Uncertain Significance

Clinical correlation and additional testing may be needed.

⚠️ When to Consult a Doctor:

If experiencing skin lesions, vision problems, or abnormal bleeding, especially with a family history of genetic disorders.

Risks & Considerations

  • Minor bruising at puncture site
  • Rare infection risk

Frequently Asked Questions

What is the GGCX Gene Pseudoxanthoma Elasticum-Like Disorder?
It is a rare genetic disorder caused by mutations in the GGCX gene, leading to skin lesions, vision issues, and bleeding problems due to coagulation factor deficiencies.
What are the symptoms of this disorder?
Symptoms include yellowish skin bumps, wrinkled skin, retinal hemorrhages, blurred vision, and abnormal bleeding.
How is this disorder diagnosed?
Diagnosis involves clinical examination and genetic testing, such as the NGS Genetic Test for the GGCX gene.
What is the NGS Genetic Test for GGCX gene?
It is a next-generation sequencing test that analyzes the GGCX gene to detect pathogenic variants associated with the disorder.
What is the cost of the test?
The test costs INR 20000, including sample collection and analysis.
Is home sample collection available?
Yes, free home sample collection is available across numerous cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks.
Who should consider this test?
Individuals with symptoms like skin lesions, vision problems, or bleeding issues, or those with a family history of the disorder.
What does a positive result mean?
A positive result confirms the presence of pathogenic variants in the GGCX gene, aiding in diagnosis and treatment planning.
What are the treatment options?
Treatment is symptomatic and may include dermatological care, vision management, and coagulation factor replacement; genetic counseling is recommended.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
How can I book the test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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