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PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test

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PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test

Also known as: CACP syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 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.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the PRG4 gene for accurate diagnosis of Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP syndrome), enabling early management and genetic counseling.

Test Code
5689
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 of the patient and a genetic counseling session to draw a pedigree chart of family members affected with CACP syndrome.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Standard blood draw or saliva collection procedure performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology; results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Sample collection via blood draw or saliva; minimal discomfort expected.
3
After the Test:Results are available in 3-4 weeks; follow-up with a geneticist for interpretation and management.

About This Test

Who Should Get This Test

To identify mutations in the PRG4 gene for accurate diagnosis of Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP syndrome), enabling early management and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient.
  • Use sterile equipment for blood collection.
  • For saliva collection, follow kit instructions carefully.
  • Label samples accurately with patient details.

Doctor's Notes

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

"Early genetic testing for CACP syndrome can guide management and improve outcomes, especially in pediatric cases with family history."

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 pathogenic variants in the PRG4 gene. A positive result confirms CACP syndrome, while a negative result may require further clinical evaluation.
Positive: Pathogenic variant detected – diagnosis of CACP syndrome confirmed.
Negative: No pathogenic variants detected – CACP syndrome unlikely, but clinical correlation needed.
Variant of uncertain significance (VUS): Further testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as joint stiffness, short stature, or heart inflammation are present, or if there is a family history of CACP syndrome.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Minimal risk of infection

Frequently Asked Questions

What is CACP syndrome?
CACP syndrome is a rare genetic disorder affecting joints, heart, and eyes, caused by mutations in the PRG4 gene.
What causes CACP syndrome?
It is caused by mutations in the PRG4 gene, which leads to defective lubricin protein production.
What are the symptoms of CACP syndrome?
Symptoms include joint stiffness, contractures, short stature, hip abnormalities, pericarditis, and eye issues like cataracts.
How is CACP syndrome diagnosed?
Diagnosis involves clinical evaluation, family history, and genetic testing such as NGS to identify PRG4 gene mutations.
What is the PRG4 gene?
The PRG4 gene provides instructions for making lubricin, a protein that lubricates joints and other tissues.
What is NGS genetic testing?
Next Generation Sequencing (NGS) is a advanced method to analyze multiple genes simultaneously for mutations.
How much does the PRG4 Gene CACP Syndrome NGS Genetic Test cost?
The test costs INR 20000 in India, with home collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
Who should consider taking this genetic test?
Individuals with symptoms of CACP syndrome or those with a family history of the condition.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it.
What should I do after receiving the test results?
Consult a geneticist or specialist for interpretation, management options, 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.

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✓ 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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