PTPN11 Gene Noonan syndrome type 1 NGS Genetic Test
Short Name: PTPN11 NGS Test
Also known as: Noonan Syndrome Type 1 Genetic Test, PTPN11 Mutation Analysis, RASopathy NGS Panel
PTPN11 Gene Noonan syndrome type 1 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 sample receipt.. 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 confirm a clinical diagnosis of Noonan Syndrome Type 1 by detecting pathogenic mutations in the PTPN11 gene. It helps in genetic counseling, management planning, and family risk assessment.
- Test Code
- 5866
- CPT Code
- 81405
- 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 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 is recommended before testing.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are typically 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 confirm a clinical diagnosis of Noonan Syndrome Type 1 by detecting pathogenic mutations in the PTPN11 gene. It helps in genetic counseling, management planning, and family risk assessment.
How to Prepare
- Ensure the patient's identity is verified.
- Use sterile EDTA vacutainer for blood collection.
- For FTA card, apply blood drops to the designated circles and air dry.
- Label the sample with patient name, date, and unique ID.
- Transport the sample to the lab within 48 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Noonan syndrome is a clinically heterogeneous disorder; genetic confirmation is essential for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay without proper storage
Understanding Your Results
Positive
Pathogenic variant detected. Confirms diagnosis. Genetic counseling recommended for family members.
Negative
No pathogenic variant found. Consider testing other RASopathy genes if clinical suspicion remains.
Variant of Uncertain Significance (VUS)
A variant with unknown clinical significance. Further segregation analysis may be needed.
Consult a geneticist or pediatrician if you or your child have features suggestive of Noonan syndrome, or if there is a family history. Early diagnosis can guide management and surveillance.
Limitations
- ⚠This test detects mutations only in the PTPN11 gene; mutations in other genes (e.g., SOS1, RAF1, RIT1) may cause Noonan syndrome and would not be detected.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Test results should be interpreted in the context of clinical findings.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (may dilute nucleated cells)
Compare With Similar Tests
| Test | PTPN11 Gene Noonan syndrome type 1 NGS Genetic Test | Sanger Sequencing | RASopathy Panel (NGS) | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | PTPN11 Gene Noonan syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is Noonan Syndrome Type 1?
How is the PTPN11 NGS test performed?
What is the cost of the PTPN11 NGS test in India?
Do I need to fast before the test?
How long does it take to get results?
What does a positive result mean?
Can this test detect all cases of Noonan syndrome?
Is genetic counseling provided?
What sample types are accepted?
Is home sample collection available?
Will I receive raw data files?
How should I prepare for the 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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