MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test
Short Name: MED13L TGA NGS Test
Also known as: MED13L Gene Sequencing, TGA Dextro-looped 1 Genetic Test, MED13L Mutation Analysis
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 Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The primary purpose of this test is to confirm a clinical diagnosis of dextro-looped transposition of the great arteries (d-TGA) caused by mutations in the MED13L gene. It is also used for carrier testing in families with a known MED13L mutation, prenatal diagnosis in at-risk pregnancies, and risk assessment for family members. Identifying the genetic basis of TGA can aid in prognosis, guide surgical planning, and provide information for recurrence risk counseling.
- Test Code
- 5963
- CPT Code
- 81408
- ICD Code
- Q20.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile techniques. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm a clinical diagnosis of dextro-looped transposition of the great arteries (d-TGA) caused by mutations in the MED13L gene. It is also used for carrier testing in families with a known MED13L mutation, prenatal diagnosis in at-risk pregnancies, and risk assessment for family members. Identifying the genetic basis of TGA can aid in prognosis, guide surgical planning, and provide information for recurrence risk counseling.
How to Prepare
- Ensure the patient's identity is verified.
- Use EDTA vacutainer for blood collection.
- For FTA card, apply one drop of blood onto the designated circle.
- Label the sample with patient's name and date of birth.
- Transport the sample to the laboratory at room temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"MED13L mutations are rare but significant causes of congenital heart defects. Early genetic diagnosis can guide management and family counseling."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the genetic diagnosis of MED13L-related d-TGA. Genetic counseling is recommended for the family.
Action: Discuss management options and recurrence risk.
Negative (No pathogenic variant detected)
No disease-causing variant was found in the MED13L gene. Other genetic or non-genetic causes may be considered.
Action: Consider further genetic testing or clinical evaluation.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Further studies may be needed.
Action: Follow-up with genetic counseling and possible family segregation studies.
Consult a clinical geneticist or pediatric cardiologist if the test result is positive or if you have concerns about your child's heart health. Early intervention is critical for TGA.
Limitations
- ⚠This test does not detect large chromosomal rearrangements or copy number variations.
- ⚠Variants in non-coding regulatory regions may not be identified.
- ⚠Interpretation may be limited by current scientific knowledge.
- ⚠A negative result does not rule out a genetic cause; other genes may be involved.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Poor quality DNA sample
- ●Contamination during sample collection
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS
Compare With Similar Tests
| Test | MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Targeted Gene Panel (Cardiac Panel) |
|---|---|---|---|---|
| Comparison | MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test | CMA detects copy number variations across the genome, but does not identify single-gene mutations like MED13L. | WES analyzes all coding regions of genes, providing broader coverage but at a higher cost and complexity. | A panel of multiple genes associated with congenital heart defects, including MED13L, may be more cost-effective if other genes are suspected. |
Frequently Asked Questions
What is the cost of the MED13L TGA NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
What is the purpose of this genetic test?
Who should consider this test?
Does this test detect all genetic causes of TGA?
Can this test be done during pregnancy?
What does a positive result mean?
What is a VUS result?
Is genetic counseling included?
In which cities is home sample collection available?
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₹20,000Reference Laboratory Services
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