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MAP2K2 Gene Cardiofaciocutaneous syndrome type 4 NGS Genetic Test

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MAP2K2 Gene Cardiofaciocutaneous syndrome type 4 NGS Genetic Test

Short Name: MAP2K2 CFC4 NGS Test

Also known as: CFC Syndrome Type 4, MAP2K2 Gene Mutation Test

MAP2K2 Gene Cardiofaciocutaneous syndrome type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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.

NGS 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

To detect mutations in the MAP2K2 gene associated with Cardiofaciocutaneous syndrome type 4, aiding in diagnosis, management, and genetic counseling.

Test Code
2515
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
NGS
Step 1

Sample Collection

No special preparation required. Genetic counseling is recommended prior to testing.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test implications and provide informed consent.
2
During the Test:Sample collection and laboratory analysis using NGS technology.
3
After the Test:Review results with a healthcare provider or genetic counselor for interpretation and next steps.

About This Test

Who Should Get This Test

To detect mutations in the MAP2K2 gene associated with Cardiofaciocutaneous syndrome type 4, aiding in diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately

Doctor's Notes

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

"Early genetic testing for CFC syndrome type 4 can guide management, inform treatment options, and support family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples are stable for 48 hours at room temperature
Extracted DNA can be stored longer under appropriate conditions
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MAP2K2 gene.
📊

Pathogenic variant detected

Consistent with Cardiofaciocutaneous syndrome type 4. Clinical correlation and genetic counseling are recommended.

📊

No pathogenic variant detected

CFC syndrome type 4 is unlikely, but further clinical evaluation may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms of CFC syndrome are present, such as heart defects, facial abnormalities, skin issues, or developmental delays, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation and genetic counseling

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Potential psychological impact of results

Interfering Factors

  • ●Sample degradation
  • ●Contamination during collection or processing

Frequently Asked Questions

What is MAP2K2 Gene Cardiofaciocutaneous syndrome type 4?
It is a rare genetic disorder caused by mutations in the MAP2K2 gene, affecting the heart, face, and skin, and is part of the RAS/MAPK pathway disorders.
What are the common symptoms of CFC syndrome type 4?
Symptoms include congenital heart defects, dysmorphic facial features, abnormal skin pigmentation, eczema, and developmental delays.
How is CFC syndrome type 4 diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as NGS, to confirm MAP2K2 gene mutations.
What is the cost of the MAP2K2 Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
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 CFC syndrome, a family history of the disorder, or suspected RASopathies should consider testing.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the MAP2K2 gene, consistent with CFC syndrome type 4, requiring clinical correlation.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible but requires consultation with a genetic specialist for appropriate sample collection and interpretation.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is strongly recommended to understand test implications, results, and management options.
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.

LIMS Integration

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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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