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MED12 Gene Opitz-Kaveggia syndrome NGS Genetic Test

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MED12 Gene Opitz-Kaveggia syndrome NGS Genetic Test

Short Name: MED12 NGS Test

Also known as: FG Syndrome Genetic Test, MED12 Gene Mutation Test, Opitz-Kaveggia Syndrome NGS Panel

MED12 Gene Opitz-Kaveggia 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 from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

The purpose of this test is to confirm a clinical diagnosis of Opitz-Kaveggia syndrome by identifying pathogenic variants in the MED12 gene. It aids in differentiating from other genetic conditions with overlapping features, guides management and surveillance, and provides information for recurrence risk counseling.

Test Code
5878
CPT Code
81407
ICD Code
Q87.8
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 the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a clinical history and genetic counseling session are recommended prior to testing.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No specific aftercare is needed. The sample is transported to the laboratory under appropriate conditions.

Timeline: 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is recommended to discuss the implications of the test, including potential outcomes and family impact.
2
During the Test:The test involves a simple blood draw or FTA card sample collection. No pain or discomfort beyond routine blood collection.
3
After the Test:Results are typically available in 3-4 weeks. A post-test counseling session is advised to explain the results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of Opitz-Kaveggia syndrome by identifying pathogenic variants in the MED12 gene. It aids in differentiating from other genetic conditions with overlapping features, guides management and surveillance, and provides information for recurrence risk counseling.

How to Prepare

  • Ensure the patient's identity is verified.
  • Use EDTA vacutainer for blood collection.
  • If using FTA card, apply one drop of blood onto the designated circle.
  • Label the sample with patient name, date, and unique ID.
  • Store at room temperature (15-25°C) until shipment.

Doctor's Notes

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

"Early genetic confirmation of Opitz-Kaveggia syndrome is crucial for timely intervention and family counseling. This NGS test provides comprehensive analysis of the MED12 gene, aiding in accurate diagnosis and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA: 7 days at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged transit without proper temperature control

Understanding Your Results

The interpretation of the MED12 gene NGS test results should be performed by a qualified geneticist or clinician. Results are reported as positive, negative, or variant of uncertain significance.
📊

Positive (Pathogenic variant)

Confirms diagnosis of Opitz-Kaveggia syndrome. Genetic counseling and family testing recommended.

📊

Negative (No pathogenic variant)

Does not rule out the condition; other genetic causes may be considered. Clinical correlation advised.

📊

Variant of Uncertain Significance (VUS)

Further testing of family members may help clarify significance. Clinical correlation required.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or pediatrician if the patient exhibits developmental delays, intellectual disability, or features suggestive of Opitz-Kaveggia syndrome. Early diagnosis can facilitate appropriate interventions.

Limitations

  • ⚠This test only analyzes the MED12 gene; other genes associated with similar phenotypes are not covered.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
  • ⚠Variant of uncertain significance (VUS) may require further family studies.
  • ⚠Test does not assess non-coding regulatory regions beyond standard coverage.

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

  • ●Poor sample quality or quantity
  • ●Contamination during sample collection
  • ●Incomplete clinical information
  • ●Rare variants of uncertain significance

Compare With Similar Tests

TestMED12 Gene Opitz-Kaveggia syndrome NGS Genetic TestChromosomal Microarray (CMA)Whole Exome Sequencing (WES)Targeted MED12 Gene Sequencing (Sanger)
ComparisonMED12 Gene Opitz-Kaveggia syndrome NGS Genetic Test

Frequently Asked Questions

What is Opitz-Kaveggia syndrome?
Opitz-Kaveggia syndrome, also known as FG syndrome, is a rare genetic disorder caused by mutations in the MED12 gene. It is characterized by intellectual disability, developmental delays, distinctive facial features, hypotonia, and behavioral issues.
How is Opitz-Kaveggia syndrome diagnosed?
Diagnosis is based on clinical evaluation and confirmed by genetic testing, such as NGS, which identifies mutations in the MED12 gene.
What is the cost of the MED12 gene NGS test at DNA Labs India?
The cost is INR 20,000, which includes genetic counseling, NGS sequencing, and a comprehensive clinical report.
What sample is required for this test?
A blood sample (2-3 ml in EDTA) or one drop of blood on an FTA card is required.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received at the laboratory.
Does DNA Labs India provide raw data files?
Yes, we provide raw data files (FASTQ, VCF) along with the clinical report for transparency.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
Is the test covered by insurance?
Insurance coverage varies; we recommend checking with your insurance provider. We also offer affordable self-pay options.
Can females be affected by Opitz-Kaveggia syndrome?
Yes, although rare, females can be affected, often with milder symptoms due to X-linked inheritance.
What is the turnaround time for the test?
The turnaround time is 3 to 4 weeks.
Is genetic counseling included?
Yes, a genetic counseling session is included to draw a pedigree and discuss the implications of the test.
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.

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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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