BRAF Gene Noonan syndrome type 7 NGS Genetic Test
Short Name: BRAF NGS Test
Also known as: Noonan Syndrome Type 7 Genetic Test, BRAF Gene Mutation Test, Cardiofaciocutaneous Syndrome Genetic Test
BRAF Gene Noonan syndrome type 7 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 Reports are available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the BRAF gene that cause Noonan syndrome type 7. This helps in confirming the clinical diagnosis, differentiating it from other RASopathies, providing prognostic information, and enabling informed genetic counseling for family planning.
- Test Code
- 5872
- CPT Code
- 81405
- ICD Code
- Q87.19
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history and genetic counseling session are recommended before the test.
Method: Venipuncture / FTA card spot
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. For FTA card, a drop of blood is placed on the card.
Report Delivery
No specific precautions. The sample is sent to the laboratory for analysis.
Timeline: Reports are available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the BRAF gene that cause Noonan syndrome type 7. This helps in confirming the clinical diagnosis, differentiating it from other RASopathies, providing prognostic information, and enabling informed genetic counseling for family planning.
How to Prepare
- Use EDTA tube for blood collection.
- For FTA card, ensure the blood spot is completely dried before packaging.
- Label the sample with patient ID and date of collection.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This NGS test is essential for confirming Noonan syndrome type 7, as clinical features can overlap with other RASopathies. Early diagnosis enables timely management of cardiac and developmental issues."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Noonan syndrome type 7. Genetic counseling recommended for family.
Likely pathogenic variant detected
Highly suggestive of the condition; further confirmation may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing of family members may help.
No pathogenic variant detected
No mutation found in BRAF gene; consider testing other RASopathy genes.
If your child has symptoms suggestive of Noonan syndrome, such as heart defects, developmental delay, or characteristic facial features, consult a clinical geneticist or pediatrician for evaluation and genetic testing.
Limitations
- ⚠This test detects mutations in the BRAF gene only; mutations in other genes (e.g., PTPN11, SOS1, RAF1) are not covered.
- ⚠Large deletions/duplications may not be detected by standard NGS.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠This test does not assess somatic mutations.
Risks & Considerations
- ●Minimal risk of bruising at the puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | BRAF Gene Noonan syndrome type 7 NGS Genetic Test | PTPN11 Gene Sequencing | RASopathy Panel (NGS) | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | BRAF Gene Noonan syndrome type 7 NGS Genetic Test |
Frequently Asked Questions
What is Noonan syndrome type 7?
How is this test performed?
What is the cost of the test?
Is fasting required before the test?
What sample is needed?
How long does it take to get results?
Can this test be done on children?
What does a positive result mean?
Are there any risks associated with the test?
Is genetic counseling included?
Can this test detect all types of Noonan syndrome?
Is home sample collection available?
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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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