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MAT2A Gene Aortic aneurysm, familial thoracic, MAT2A related NGS Genetic Test

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MAT2A Gene Aortic aneurysm, familial thoracic, MAT2A related NGS Genetic Test

Short Name: MAT2A Genetic Test

Also known as: MAT2A Gene Test, Familial Thoracic Aortic Aneurysm Genetic Test, FTAAD Genetic Test

MAT2A Gene Aortic aneurysm, familial thoracic, MAT2A related 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 familial thoracic aortic aneurysm caused by MAT2A gene mutations and assess the risk of developing aortic aneurysm or dissection, enabling early intervention and personalized care.

Test Code
2558
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and family pedigree during genetic counseling.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding and avoid strenuous activity.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss the implications, benefits, and limitations of testing.
2
During the Test:Sample collection and DNA extraction followed by NGS analysis in a certified laboratory.
3
After the Test:Results are reviewed by a geneticist and reported with recommendations for follow-up.

About This Test

Who Should Get This Test

To diagnose familial thoracic aortic aneurysm caused by MAT2A gene mutations and assess the risk of developing aortic aneurysm or dissection, enabling early intervention and personalized care.

How to Prepare

  • Ensure proper patient identification and labeling of samples
  • Use sterile collection tubes or FTA cards as specified
  • Transport samples at ambient room temperature to the lab promptly

Doctor's Notes

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

"Genetic testing for MAT2A is crucial for early detection and management of familial thoracic aortic aneurysm, especially in families with a history of the condition. It enables personalized monitoring and preventive strategies to reduce the risk of life-threatening 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
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples stable at room temperature for up to 24 hours
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume for analysis
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MAT2A gene, which are associated with familial thoracic aortic aneurysm.
📊

Positive for MAT2A mutation

Increased risk of familial thoracic aortic aneurysm and dissection. Recommend genetic counseling, regular cardiovascular monitoring, and consultation with a specialist for management.

📊

Negative for MAT2A mutation

No pathogenic variant detected in the MAT2A gene. However, clinical correlation is advised, as other genetic or environmental factors may contribute to aortic disease.

⚠️ When to Consult a Doctor:

If you have a family history of aortic aneurysm, experience symptoms like chest pain, back pain, or shortness of breath, or receive a positive genetic test result, consult a healthcare professional immediately for further evaluation and management.

Limitations

  • ⚠Test may not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require interpretation by a geneticist and correlation with clinical findings
  • ⚠Genetic testing does not replace clinical diagnosis or imaging studies

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, including anxiety or stress
  • ●Potential for incidental findings unrelated to aortic aneurysm

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA due to improper storage or handling
  • ●Presence of inhibitors in the sample affecting NGS analysis

Compare With Similar Tests

TestMAT2A Gene Aortic aneurysm, familial thoracic, MAT2A related NGS Genetic TestTGFBR1 Gene TestSMAD3 Gene TestACTA2 Gene TestFBN1 Gene Test
ComparisonMAT2A Gene Aortic aneurysm, familial thoracic, MAT2A related NGS Genetic TestTests for mutations in the TGFBR1 gene, another cause of familial thoracic aortic aneurysm.Analyzes the SMAD3 gene associated with aortic aneurysm and connective tissue disorders.Detects mutations in the ACTA2 gene linked to familial thoracic aortic aneurysm.Screens for FBN1 gene mutations causing Marfan syndrome, which includes aortic aneurysm risk.

Frequently Asked Questions

What is the MAT2A gene?
The MAT2A gene provides instructions for making an enzyme involved in producing S-adenosylmethionine (SAMe), which is important for cellular processes like DNA methylation.
What is familial thoracic aortic aneurysm (FTAAD)?
FTAAD is a genetic condition that increases the risk of developing aneurysms or dissections in the thoracic aorta, the main artery in the chest.
How is the MAT2A genetic test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample for mutations in the MAT2A gene.
What does a positive test result mean?
A positive result indicates a mutation in the MAT2A gene, which increases the risk of familial thoracic aortic aneurysm. Genetic counseling is recommended for management.
What are the symptoms of FTAAD?
Many people have no symptoms until an aneurysm or dissection occurs, but symptoms can include chest pain, back pain, shortness of breath, or stroke-like symptoms.
Is genetic testing necessary for everyone?
Testing is recommended for individuals with a family history of aortic aneurysm or symptoms suggestive of FTAAD, as advised by a healthcare professional.
How accurate is the MAT2A genetic test?
The test is highly accurate for detecting mutations in the MAT2A gene using NGS technology, but results should be interpreted by a geneticist.
What is the cost of the test?
The MAT2A Gene NGS Genetic Test costs INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Can the test be done during pregnancy?
Yes, genetic testing can be performed during pregnancy, but genetic counseling is essential to discuss implications and options.
What should I do after receiving the results?
Consult a geneticist or healthcare professional to understand the results, discuss management strategies, and consider family screening if needed.
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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✓ 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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