MED12 Gene Lujan-Fryns syndrome NGS Genetic Test
Short Name: MED12 NGS
Also known as: XLID20, X-linked intellectual disability type 20
MED12 Gene Lujan-Fryns syndrome 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the MED12 gene that are associated with Lujan-Fryns syndrome. This helps in confirming a clinical diagnosis, providing prognostic information, and enabling genetic counseling for the patient and family members.
- Test Code
- 5821
- CPT Code
- 81407
- ICD Code
- F70
- 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)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. If using FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is required. The sample will be sent to the laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the MED12 gene that are associated with Lujan-Fryns syndrome. This helps in confirming a clinical diagnosis, providing prognostic information, and enabling genetic counseling for the patient and family members.
How to Prepare
- Ensure the patient's identity is verified.
- Use sterile equipment for blood collection.
- Label the sample correctly with patient details.
- If using FTA card, allow the blood spot to dry completely before packaging.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of Lujan-Fryns syndrome is crucial for appropriate management and family counseling. NGS provides a comprehensive analysis of the MED12 gene, enabling accurate identification of pathogenic variants."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of Lujan-Fryns syndrome. Genetic counseling is recommended for the family.
No pathogenic variant detected
Does not rule out Lujan-Fryns syndrome; other genetic causes may be considered. Clinical correlation is advised.
Variant of uncertain significance (VUS)
Further testing of family members may help clarify the significance. Clinical correlation is essential.
Consult a clinical geneticist or pediatrician if you or your child has symptoms suggestive of Lujan-Fryns syndrome, such as intellectual disability, speech delay, or characteristic facial features. Early diagnosis can facilitate appropriate management.
Limitations
- ⚠This test detects mutations in the MED12 gene only; other genetic causes of intellectual disability may not be identified.
- ⚠Variants of uncertain significance may be reported; further familial testing may be required.
- ⚠NGS may not detect large deletions/duplications; additional testing may be needed if clinically indicated.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contamination of sample during collection
- ●Insufficient DNA quantity
- ●Presence of maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | MED12 Gene Lujan-Fryns syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | Sanger Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | MED12 Gene Lujan-Fryns syndrome NGS Genetic Test |
Frequently Asked Questions
What is Lujan-Fryns syndrome?
How is Lujan-Fryns syndrome diagnosed?
What is the cost of the MED12 NGS test?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done on children?
What does NGS stand for?
Will I receive raw data files?
Is genetic counseling included?
What are the symptoms of Lujan-Fryns syndrome?
How accurate is the NGS test?
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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.
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✓ 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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