MED13L Gene Mental retardation and distinctive facial features with or without cardiac defects NGS Genetic Test
Short Name: MED13L NGS Test
Also known as: MED13L gene sequencing, MED13L-related disorder genetic test, Intellectual disability NGS panel
MED13L Gene Mental retardation and distinctive facial features with or without cardiac defects 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 at laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the MED13L gene that are associated with intellectual disability, distinctive facial features, and cardiac defects. It aids in confirming a clinical diagnosis, guiding medical management, and providing accurate recurrence risk for family planning.
- Test Code
- 5837
- CPT Code
- 81407
- ICD Code
- Q87.89
- 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 at 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.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. If using FTA card, a simple fingerstick is performed.
Report Delivery
No specific aftercare is needed. The sample will be sent to the laboratory for analysis.
Timeline: 3 to 4 weeks from sample receipt at laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the MED13L gene that are associated with intellectual disability, distinctive facial features, and cardiac defects. It aids in confirming a clinical diagnosis, guiding medical management, and providing accurate recurrence risk for family planning.
How to Prepare
- Ensure the patient's clinical history and pedigree chart are provided.
- Use EDTA tube for blood collection; label with patient ID.
- If using FTA card, apply one drop of blood to the designated circle and allow to dry.
- Transport samples at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of MED13L-related disorders is crucial for timely intervention and management of intellectual disability and cardiac anomalies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample not received within stability period
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of MED13L-related disorder. Genetic counseling and family testing recommended.
Likely pathogenic variant detected
Highly suggestive of the disorder; further clinical correlation and family studies may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing or segregation analysis may be helpful.
No pathogenic variant detected
Does not rule out MED13L-related disorder; other genetic causes may be considered.
If you or your child have unexplained intellectual disability, dysmorphic features, or congenital heart defects, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.
Limitations
- ⚠This test detects single nucleotide variants and small indels in the MED13L gene; large deletions/duplications may not be detected.
- ⚠Variants of uncertain significance (VUS) may be reported; further testing may be required.
- ⚠Negative result does not exclude a genetic cause; other genes may be involved.
- ⚠Test is not intended for prenatal diagnosis without prior counseling.
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of 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 Mental retardation and distinctive facial features with or without cardiac defects NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Karyotype |
|---|---|---|---|---|
| Comparison | MED13L Gene Mental retardation and distinctive facial features with or without cardiac defects NGS Genetic Test |
Frequently Asked Questions
What is the MED13L gene?
What does this NGS genetic test detect?
Who should consider this test?
What is the cost of the test?
What sample is required?
How long does it take to get results?
Is fasting required before the test?
Can this test be done at home?
What does a positive result mean?
What does a negative result mean?
Are there any risks associated with the test?
Is genetic counseling provided?
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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.
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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