MAP2K1 Gene Cardiofaciocutaneous syndrome type 3 NGS Genetic Test
Short Name: MAP2K1 Gene CFC3 NGS Test
Also known as: CFC3, Cardiofaciocutaneous syndrome type 3
MAP2K1 Gene Cardiofaciocutaneous syndrome type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the MAP2K1 gene to confirm a diagnosis of Cardiofaciocutaneous syndrome type 3 (CFC3), guide clinical management, and provide information for genetic counseling and family planning.
- Test Code
- 2512
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- NGS, Next-Generation Sequencing
Sample Collection
No special preparation is required. Ensure genetic counseling is scheduled if needed.
Method: Venipuncture or FTA card collection
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a saliva sample may be collected using a kit.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the MAP2K1 gene to confirm a diagnosis of Cardiofaciocutaneous syndrome type 3 (CFC3), guide clinical management, and provide information for genetic counseling and family planning.
How to Prepare
- For blood sample: Use sterile technique and appropriate collection tube
- For FTA card: Follow instructions for blood drop application
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for CFC3 is essential for accurate diagnosis, management, and family planning. Consult a genetic counselor for personalized advice."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive
Pathogenic mutation detected in MAP2K1 gene, consistent with CFC3 diagnosis. Genetic counseling and management planning recommended.
Negative
No pathogenic variants detected. Consider other genetic tests or clinical evaluation if symptoms persist.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.
Consult a doctor or genetic counselor if you have symptoms of CFC3, a family history of the condition, or after receiving test results for interpretation and next steps.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not rule out other genetic disorders with similar symptoms
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or discomfort
- ●Psychological impact of genetic results; counseling is advised
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusion may affect results
Compare With Similar Tests
| Test | MAP2K1 Gene Cardiofaciocutaneous syndrome type 3 NGS Genetic Test | BRAF Gene Mutation Analysis | KRAS Gene Sequencing | RAF1 Gene Test | SOS1 Gene Analysis |
|---|---|---|---|---|---|
| Comparison | MAP2K1 Gene Cardiofaciocutaneous syndrome type 3 NGS Genetic Test | Detects mutations in BRAF gene, associated with CFC syndrome type 1; may be considered if MAP2K1 test is negative. | Identifies mutations in KRAS gene, linked to CFC syndrome type 2; useful for differential diagnosis. | Analyzes RAF1 gene for mutations causing Noonan syndrome with multiple lentigines; overlaps with CFC symptoms. | Tests for SOS1 gene mutations associated with Noonan syndrome; may be relevant for similar phenotypes. |
Frequently Asked Questions
What is MAP2K1 Gene Cardiofaciocutaneous syndrome type 3?
What are the common symptoms of CFC3?
How is CFC3 diagnosed?
What is the cost of the MAP2K1 Gene NGS Genetic Test?
How long does it take to get test results?
Is home sample collection available for this test?
What sample type is required for the test?
Is fasting required before the test?
What does a positive test result mean?
Are there any risks associated with the test?
Is genetic counseling recommended before testing?
How can I book the MAP2K1 Gene NGS Genetic Test?
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₹20,000Reference 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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