RAF1 Gene Noonan syndrome type 5 NGS Genetic Test
Short Name: RAF1 NGS Test
Also known as: RAF1 Gene Mutation Test, Noonan Syndrome Type 5 Genetic Test, RAF1 Sequencing
RAF1 Gene Noonan syndrome type 5 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 detect mutations in the RAF1 gene that are associated with Noonan syndrome type 5. Early diagnosis enables timely intervention and management of symptoms, and provides crucial information for family planning and genetic counseling.
- Test Code
- 5871
- CPT Code
- 81407
- ICD Code
- Q87.19
- 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 fasting required. A genetic counseling session is recommended to draw a pedigree chart of family members affected with RAF1 gene Noonan syndrome type 5. Please bring any relevant medical records.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is performed.
Report Delivery
No special precautions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the RAF1 gene that are associated with Noonan syndrome type 5. Early diagnosis enables timely intervention and management of symptoms, and provides crucial information for family planning and genetic counseling.
How to Prepare
- For blood sample: Use EDTA tube, mix gently.
- For FTA card: Apply one drop of blood on the designated circle, air dry.
- Label the sample with patient name and date of birth.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"RAF1 mutations are a rare cause of Noonan syndrome, but genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit (>7 days) without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of Noonan syndrome type 5. Genetic counseling recommended for family members.
Negative (No pathogenic variant detected)
No RAF1 mutation found. Other genetic causes of Noonan syndrome may be considered.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be needed.
Consult a clinical geneticist or pediatrician if you or your child have features suggestive of Noonan syndrome, or if you have a family history of RAF1 mutations. Early diagnosis can guide management and surveillance.
Limitations
- ⚠This test detects mutations in the RAF1 gene only; other genes associated with Noonan syndrome are not analyzed.
- ⚠Variant of uncertain significance (VUS) may be reported; further testing may be required.
- ⚠Large deletions/duplications may not be detected by standard NGS sequencing.
- ⚠Test does not assess non-coding regulatory regions.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Bone marrow transplant recipients may have mixed DNA
Compare With Similar Tests
| Test | RAF1 Gene Noonan syndrome type 5 NGS Genetic Test | PTPN11 Gene NGS Test | SOS1 Gene NGS Test | Noonan Syndrome Panel (Multi-gene) |
|---|---|---|---|---|
| Comparison | RAF1 Gene Noonan syndrome type 5 NGS Genetic Test | PTPN11 mutations are the most common cause of Noonan syndrome (50%). RAF1 is less common (<5%). Both tests use NGS but target different genes. | SOS1 mutations account for ~10% of Noonan syndrome. Testing both RAF1 and SOS1 may be considered if clinical suspicion is high. | A panel test covers multiple genes (PTPN11, SOS1, RAF1, etc.) in one run, which may be more cost-effective than single-gene testing. |
Frequently Asked Questions
What is Noonan syndrome type 5?
How is the RAF1 gene test performed?
What is the cost of the RAF1 gene test at DNA Labs India?
Is fasting required before the test?
How long does it take to get the results?
Can the test be done on children?
What sample types are accepted?
Does the test detect all Noonan syndrome types?
What does a positive result mean?
What if the result is negative?
Is home sample collection available?
Will insurance cover the cost?
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₹20,000Reference Laboratory Services
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