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MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test

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MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test

Short Name: MED13L TGA D-looped 1 NGS Test

Also known as: TGA, D-looped 1, Transposition of the great arteries, dextro-looped 1

MED13L Gene Transposition of the great arteries, dextro-looped 1 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this test is to detect pathogenic variants in the MED13L gene that cause transposition of the great arteries, dextro-looped 1, enabling accurate diagnosis, guiding clinical management, and facilitating genetic counseling for affected individuals and families.

Test Code
5354
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 of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with MED13L gene mutations.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or finger-prick for FTA card collection.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis; results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection is a simple procedure with minimal discomfort.
3
After the Test:Monitor for any signs of infection at the collection site; await results as per turnaround time.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the MED13L gene that cause transposition of the great arteries, dextro-looped 1, enabling accurate diagnosis, guiding clinical management, and facilitating genetic counseling for affected individuals and families.

How to Prepare

  • Ensure patient clinical history is documented
  • Genetic counseling session is recommended prior to testing
  • Use appropriate collection tubes (EDTA or FTA card)
  • Label samples correctly with patient details

Doctor's Notes

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

"Early genetic testing for MED13L mutations can guide management and family counseling for transposition of the great arteries, dextro-looped 1."

Last medically reviewed: September 3, 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 for 24-48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
FTA cards: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MED13L gene. Positive results confirm genetic basis for TGA, D-looped 1, while negative results may require further testing or clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of MED13L-related TGA, D-looped 1; genetic counseling and management recommended.

📊

No pathogenic variant detected

MED13L gene mutations not identified; consider other genetic or clinical causes.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms such as cyanosis, shortness of breath, or rapid heartbeat are present, or if there is a family history of congenital heart defects.

Limitations

  • ⚠May not detect all genetic variants or structural changes
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Limited to MED13L gene; other genetic causes may not be identified

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Hemolyzed blood samples
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is the MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to identify mutations in the MED13L gene associated with transposition of the great arteries, dextro-looped 1, a congenital heart defect.
What are the symptoms of MED13L Gene Transposition of the great arteries, dextro-looped 1?
Symptoms include cyanosis (blue skin), shortness of breath, rapid heartbeat, fatigue, and poor feeding in infants, often appearing shortly after birth.
How is this condition diagnosed?
Diagnosis involves physical examination, medical history, and tests like echocardiogram, ECG, chest X-ray, MRI, and cardiac catheterization, followed by genetic testing for confirmation.
What is the cost of the MED13L Gene Test at DNA Labs India?
The test costs INR 20000, with free home sample collection available across India.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the MED13L gene, confirming the genetic basis for the condition and guiding management.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; prenatal testing may require different methods and genetic counseling.
What are the risks associated with this test?
Risks are minimal and include minor bruising from blood draw, rare infection, and potential emotional impact of results.
How should I prepare for the test?
Prepare by providing clinical history and undergoing genetic counseling; no special preparation like fasting is 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.

LIMS Integration

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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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