RIT1 Gene Noonan syndrome type 8 NGS Genetic Test
Short Name: RIT1 NGS Test
Also known as: RIT1 Gene Sequencing, Noonan Syndrome Type 8 Genetic Test, RIT1 Mutation Analysis
RIT1 Gene Noonan syndrome type 8 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 available within 3 to 4 weeks after the sample reaches the laboratory.. 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 pathogenic variants in the RIT1 gene that are associated with Noonan syndrome type 8. It is indicated for individuals with clinical features suggestive of Noonan syndrome, particularly when other common genes (PTPN11, SOS1, RAF1, etc.) have tested negative. The test aids in confirming the diagnosis, guiding medical surveillance, and enabling accurate genetic counseling for the family.
- Test Code
- 5874
- CPT Code
- 81407
- ICD Code
- Q87.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches 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
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the RIT1 gene that are associated with Noonan syndrome type 8. It is indicated for individuals with clinical features suggestive of Noonan syndrome, particularly when other common genes (PTPN11, SOS1, RAF1, etc.) have tested negative. The test aids in confirming the diagnosis, guiding medical surveillance, and enabling accurate genetic counseling for the family.
How to Prepare
- For blood sample: Use EDTA tube, fill to the indicated mark.
- For FTA card: Apply one drop of blood onto the designated circle.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for RIT1 mutations is crucial for confirming Noonan syndrome type 8, guiding management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic or Likely Pathogenic variant detected
Confirms the diagnosis of Noonan syndrome type 8. Genetic counseling and family screening are recommended.
No pathogenic variant detected
Does not rule out Noonan syndrome; other genes may be involved. Consider broader panel testing.
Variant of Uncertain Significance (VUS) detected
The clinical significance is unknown. Further testing of family members may help clarify.
If you or your child have symptoms suggestive of Noonan syndrome, such as short stature, characteristic facial features, heart defects, or developmental delays, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.
Limitations
- ⚠This test only analyzes the RIT1 gene; mutations in other genes associated with Noonan syndrome will not be detected.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant interpretation may be limited by current scientific knowledge.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic test results
- ●Potential for incidental findings
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete coverage of the gene due to technical limitations
Compare With Similar Tests
| Test | RIT1 Gene Noonan syndrome type 8 NGS Genetic Test | PTPN11 Gene Sequencing | SOS1 Gene Sequencing | RAF1 Gene Sequencing | Noonan Syndrome Multi-Gene Panel |
|---|---|---|---|---|---|
| Comparison | RIT1 Gene Noonan syndrome type 8 NGS Genetic Test |
Frequently Asked Questions
What is Noonan syndrome type 8?
How is the RIT1 gene test performed?
What is the cost of the RIT1 gene test at DNA Labs India?
Do I need to fast before the test?
How long does it take to get the results?
Will I receive raw data files?
Is home sample collection available?
What is the sample type required?
Can this test detect all types of Noonan syndrome?
What does a positive result mean?
Are there any risks associated with the test?
Is the test covered by insurance?
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₹20,000Reference Laboratory Services
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