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PRKG1 Gene Aortic aneurysm, familial thoracic type 8 NGS Genetic Test

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PRKG1 Gene Aortic aneurysm, familial thoracic type 8 NGS Genetic Test

Short Name: PRKG1 Aortic Aneurysm Genetic Test

Also known as: PRKG1 Gene Test, Familial Thoracic Aortic Aneurysm Type 8 Test, PRKG1 Mutation Analysis

PRKG1 Gene Aortic aneurysm, familial thoracic type 8 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 detect mutations in the PRKG1 gene associated with familial thoracic aortic aneurysm type 8. It helps in diagnosing the genetic cause of aortic aneurysm, assessing risk for family members, and guiding clinical management including surveillance and preventive measures.

Test Code
2549
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

Provide clinical history and family pedigree. Genetic counseling recommended.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick for FTA card.

Step 3

Report Delivery

Apply pressure to puncture site. Store sample as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor. Provide detailed family medical history.
2
During the Test:A blood sample will be drawn. The process is quick and minimally invasive.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your doctor for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the PRKG1 gene associated with familial thoracic aortic aneurysm type 8. It helps in diagnosing the genetic cause of aortic aneurysm, assessing risk for family members, and guiding clinical management including surveillance and preventive measures.

How to Prepare

  • Fast for 8-12 hours if specified, but not required for this test
  • Avoid strenuous activity before sample collection
  • Bring identification and doctor's prescription

Doctor's Notes

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

"Genetic testing for PRKG1 mutations is crucial for identifying individuals at risk of familial thoracic aortic aneurysm, allowing for proactive monitoring and timely intervention to prevent complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for testing
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of mutations in the PRKG1 gene. A positive result suggests a genetic predisposition to familial thoracic aortic aneurysm.
📊

No pathogenic variants detected

Low risk for PRKG1-related aortic aneurysm, but clinical correlation needed.

📊

Pathogenic variant detected

High risk for familial thoracic aortic aneurysm. Recommend cardiac monitoring and genetic counseling.

⚠️ When to Consult a Doctor:

If you have a family history of aortic aneurysm, experience symptoms like chest pain, or receive a positive genetic test result, consult a cardiologist or genetic specialist immediately.

Limitations

  • ⚠May not detect all mutations in PRKG1 gene
  • ⚠Results should be interpreted in clinical context

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Contaminated DNA sample
  • ●Degraded sample quality

Frequently Asked Questions

What is the PRKG1 Gene Aortic Aneurysm Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the PRKG1 gene, which are associated with familial thoracic aortic aneurysm type 8.
Who should take this test?
Individuals with a family history of aortic aneurysm, symptoms like chest pain or shortness of breath, or those diagnosed with thoracic aortic aneurysm.
What are the symptoms of aortic aneurysm?
Symptoms may include chest pain, back pain, shortness of breath, difficulty swallowing, hoarseness, or coughing, though often asymptomatic until rupture.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to identify PRKG1 gene mutations.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection, genetic analysis, and report generation.
Is home collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the PRKG1 gene, suggesting a high risk for familial thoracic aortic aneurysm and requiring further monitoring.
Can this test be used for prenatal diagnosis?
This test is not typically used for prenatal diagnosis; consult a genetic counselor for prenatal options.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to discuss implications and family planning.
What are the risks of the test?
Risks are minimal, including minor bruising from blood draw, rare infection, and potential emotional impact of results.
How accurate is the test?
The test uses advanced NGS technology for high accuracy, but results should be interpreted in clinical context with other diagnostic information.
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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