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MED12 Gene FG syndrome type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MED12 Gene FG syndrome type 1 NGS Genetic Test

Short Name: MED12 FG Syndrome Type 1 Test

Also known as: MED12 gene mutation test, FGS1 genetic test, MED12 NGS test

MED12 Gene FG syndrome type 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 Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the MED12 Gene FG syndrome type 1 NGS Genetic Test is to detect mutations in the MED12 gene to confirm a diagnosis of FG syndrome type 1. This aids in differentiating it from other genetic conditions, guiding clinical management, informing family planning, and providing access to appropriate supportive care and resources.

Test Code
1607
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, undergo genetic counseling to draw a pedigree chart, and ensure a doctor's prescription is available.

Method: Venipuncture or Blood spot on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or a blood drop on an FTA card, performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is transported to the laboratory under appropriate conditions for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:Blood draw or FTA card sample collection is minimally invasive and takes a few minutes.
3
After the Test:Monitor the collection site for any bruising or discomfort; results will be available in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of the MED12 Gene FG syndrome type 1 NGS Genetic Test is to detect mutations in the MED12 gene to confirm a diagnosis of FG syndrome type 1. This aids in differentiating it from other genetic conditions, guiding clinical management, informing family planning, and providing access to appropriate supportive care and resources.

How to Prepare

  • No specific fasting required, but follow any instructions from your doctor
  • Bring a valid ID and prescription
  • Ensure proper labeling of the sample

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for FG syndrome type 1 can guide management, family planning, and access to supportive care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or Blood spot on FTA card

Sample Stability

Blood samples are stable for up to 48 hours at room temperature if collected in EDTA tubes
FTA card samples can be stored at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect sample labeling or missing documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the MED12 gene associated with FG syndrome type 1. Interpretation should be done by a genetic specialist in correlation with clinical findings.
Positive: Pathogenic mutation detected in MED12 gene, confirming FG syndrome type 1 diagnosis.
Negative: No pathogenic variant detected, but clinical correlation is necessary as symptoms may overlap with other conditions.
Variant of Uncertain Significance (VUS): A genetic variant found that lacks sufficient evidence for classification; further testing or family studies may be required.
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms such as intellectual disability, developmental delays, or physical abnormalities are present, or if there is a family history of FG syndrome. Also, consult after receiving test results for counseling and management.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Variants of uncertain significance (VUS) may require further investigation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Very low risk of infection
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Incorrect sample type or improper collection
  • ●Technical errors in sequencing

Frequently Asked Questions

What is FG syndrome type 1?
FG syndrome type 1 is a rare X-linked genetic disorder caused by mutations in the MED12 gene, leading to intellectual disability, developmental delays, and physical abnormalities.
What are the common symptoms of FG syndrome type 1?
Symptoms include intellectual disability, developmental delays, speech and language delays, behavioral problems, and physical features like microcephaly and hypotonia.
How is FG syndrome type 1 diagnosed?
Diagnosis is confirmed through genetic testing, specifically the NGS Genetic Test that analyzes the MED12 gene for mutations.
What is the cost of the MED12 Gene FG syndrome type 1 NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What samples are required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this genetic test?
Individuals with symptoms of FG syndrome type 1, such as intellectual disability or developmental delays, or those with a family history of the condition.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the MED12 gene, confirming FG syndrome type 1 diagnosis. Genetic counseling is recommended.
What is the role of genetic counseling?
Genetic counseling helps interpret test results, understand implications for family planning, and provide support for management and treatment options.
Is the test covered by insurance?
Coverage may vary; it is advisable to check with your insurance provider. DNA Labs India offers testing at a fixed cost.
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

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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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