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MCTP2 Gene Coarctation of the aorta NGS Genetic Test

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MCTP2 Gene Coarctation of the aorta NGS Genetic Test

Short Name: MCTP2 CoA NGS Test

Also known as: MCTP2 Gene Test for Coarctation of Aorta, Coarctation of Aorta Genetic Test

MCTP2 Gene Coarctation of the aorta 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 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 identify mutations in the MCTP2 gene that may cause coarctation of the aorta, facilitating early diagnosis and personalized treatment.

Test Code
5322
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

No specific preparation required. Inform the healthcare provider about any medications or medical conditions.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a finger prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation needed. Genetic counseling session recommended.
2
During the Test:Sample collection takes about 10-15 minutes.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your doctor.

About This Test

Who Should Get This Test

To identify mutations in the MCTP2 gene that may cause coarctation of the aorta, facilitating early diagnosis and personalized treatment.

How to Prepare

  • Fast for 8-12 hours if specified, but not required for this test
  • Bring identification and doctor's prescription
  • Wear loose clothing for easy access to arm

Doctor's Notes

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

"Genetic testing for MCTP2 mutations can provide valuable insights for managing coarctation of the aorta, especially in families with a history of congenital heart defects."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick

Sample Stability

Room Temperature
Refrigerated
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect sample type
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MCTP2 gene. Consult a genetic counselor for detailed interpretation.
📊

Positive for pathogenic variant

Mutation detected, associated with increased risk of coarctation of the aorta. Further clinical evaluation recommended.

📊

Negative

No pathogenic variants detected. However, clinical correlation is advised.

📊

Variant of uncertain significance

Genetic variant found but clinical significance unknown. May require further testing or family studies.

⚠️ When to Consult a Doctor:

If you experience symptoms like high blood pressure, chest pain, or have a family history of heart defects, consult a cardiologist or geneticist.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have psychological impact

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of results
  • ●Privacy concerns with genetic data

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Recent blood transfusion

Frequently Asked Questions

What is the MCTP2 Gene Coarctation of the Aorta NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to analyze the MCTP2 gene for mutations associated with coarctation of the aorta, a congenital heart defect.
Who should consider this test?
Individuals with symptoms of coarctation, family history of the condition, or those undergoing evaluation for congenital heart defects should consider this test.
What does the test detect?
The test detects mutations in the MCTP2 gene that may cause or increase the risk of coarctation of the aorta.
How is the test performed?
A blood sample or DNA extract is collected and analyzed using NGS technology to identify genetic variants in the MCTP2 gene.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and report generation.
Is home sample 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 within 3 to 4 weeks after sample collection.
What are the symptoms of coarctation of the aorta?
Symptoms include high blood pressure, chest pain, shortness of breath, fatigue, dizziness, and fainting, though some cases may be asymptomatic.
Can this test diagnose coarctation of the aorta?
The test aids in diagnosis by identifying genetic mutations, but clinical correlation with imaging and physical exam is necessary for definitive diagnosis.
What is the role of the MCTP2 gene?
The MCTP2 gene provides instructions for a protein involved in heart development; mutations can disrupt normal aortic development, leading to coarctation.
Are there any risks associated with the test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact of results. Genetic counseling is recommended.
How should I prepare for the test?
No special preparation is required. Inform your doctor about any medications and attend a genetic counseling session if recommended.
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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