SOS1 Gene Noonan syndrome type 4 NGS Genetic Test
Short Name: SOS1 NGS Test
Also known as: SOS1 Gene Mutation Test, Noonan Syndrome Type 4 Genetic Test, SOS1 Sequencing
SOS1 Gene Noonan syndrome type 4 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 typically delivered within 3 to 4 weeks after the sample is received at the laboratory.. 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 the SOS1 gene NGS genetic test is to confirm a clinical diagnosis of Noonan syndrome type 4 by identifying pathogenic mutations in the SOS1 gene. It helps in differentiating Noonan syndrome from other RASopathies, guiding treatment decisions, and enabling genetic counseling for affected families. The test also aids in assessing the risk of recurrence in future pregnancies and can be used for prenatal diagnosis if a familial mutation is known.
- Test Code
- 5870
- 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
- Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A small blood sample will be drawn from a vein in your arm, or a fingerstick blood spot may be collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. There are no restrictions after sample collection.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SOS1 gene NGS genetic test is to confirm a clinical diagnosis of Noonan syndrome type 4 by identifying pathogenic mutations in the SOS1 gene. It helps in differentiating Noonan syndrome from other RASopathies, guiding treatment decisions, and enabling genetic counseling for affected families. The test also aids in assessing the risk of recurrence in future pregnancies and can be used for prenatal diagnosis if a familial mutation is known.
How to Prepare
- For blood sample: Use EDTA tube, fill to the indicated mark, and mix gently.
- For FTA card: Apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient name, date, and time of collection.
- Transport the sample to the laboratory at ambient temperature within 24 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SOS1 mutations is crucial for confirming Noonan syndrome type 4, guiding management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (pathogenic variant detected)
Confirms the diagnosis of Noonan syndrome type 4. Genetic counseling is recommended for the patient and family.
Negative (no pathogenic variant detected)
Does not rule out Noonan syndrome, as mutations in other genes may be responsible. Consider testing other RASopathy genes.
Variant of uncertain significance (VUS)
A genetic change was found, but its clinical significance is unknown. Further testing of family members may help clarify.
If you or your child have symptoms suggestive of Noonan syndrome, or if there is a family history of the condition, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.
Limitations
- ⚠This test only analyzes the SOS1 gene; mutations in other genes causing Noonan syndrome will not be detected.
- ⚠Large deletions or duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variants of uncertain significance may be reported; further family studies may be needed.
- ⚠The test does not assess the functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for finding variants of uncertain significance
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination during sample collection
- ●Insufficient sample volume
- ●Recent blood transfusion (may dilute DNA)
Compare With Similar Tests
| Test | SOS1 Gene Noonan syndrome type 4 NGS Genetic Test | RASopathy Gene Panel | Whole Exome Sequencing | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | SOS1 Gene Noonan syndrome type 4 NGS Genetic Test | This panel tests multiple genes including SOS1, PTPN11, RAF1, etc. It is more comprehensive but may be more expensive. | WES analyzes all coding regions of the genome. It can detect mutations in any gene but is costlier and may have incidental findings. | Sanger sequencing is used for targeted single-site analysis, often to confirm a known familial mutation. It is less comprehensive than NGS. |
Frequently Asked Questions
What is the cost of the SOS1 gene Noonan syndrome type 4 NGS genetic test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Can this test detect all types of Noonan syndrome?
Will I receive raw data files?
Is home sample collection available?
What is the significance of genetic counseling before the test?
Can this test be done on children?
What does a positive result mean?
Are there any risks associated with the test?
Is this test covered by insurance?
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