CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test
Short Name: CBL Gene NGS
Also known as: CBL Gene Mutation Test, Noonan Syndrome-like Disorder NGS Panel, JMML Genetic Test
CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia 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 Results 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 NGS genetic test is to identify mutations in the CBL gene that cause Noonan syndrome-like disorder with or without JMML. This test is indicated for individuals presenting with clinical features suggestive of the condition, such as distinctive facial dysmorphism, short stature, cardiac anomalies, and developmental delay. It also aids in differentiating this disorder from other RASopathies and provides essential information for family planning and genetic counseling.
- Test Code
- 5876
- 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
- Results 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 prior to testing to discuss implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by venipuncture or fingerstick for FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis.
Timeline: Results 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 NGS genetic test is to identify mutations in the CBL gene that cause Noonan syndrome-like disorder with or without JMML. This test is indicated for individuals presenting with clinical features suggestive of the condition, such as distinctive facial dysmorphism, short stature, cardiac anomalies, and developmental delay. It also aids in differentiating this disorder from other RASopathies and provides essential information for family planning and genetic counseling.
How to Prepare
- Ensure the patient's clinical history is documented
- Use EDTA tube for blood collection
- For FTA card, apply one drop of blood and let it dry
- Label the sample with patient ID and date
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of CBL gene mutations is crucial for managing Noonan syndrome-like disorder and monitoring for JMML. This NGS test provides comprehensive analysis to guide clinical decisions."
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 transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Noonan syndrome-like disorder with or without JMML. Genetic counseling and family screening recommended.
Variant of uncertain significance (VUS)
Further testing or segregation analysis may be needed to clarify significance.
No pathogenic variant detected
Does not rule out the condition; other genetic causes may be considered.
Consult a clinical geneticist or pediatrician if your child shows features suggestive of Noonan syndrome-like disorder, such as distinctive facial features, growth delay, or unexplained blood abnormalities. Early referral for genetic testing can aid in management.
Limitations
- ⚠This test detects mutations in the CBL gene only; other RASopathy genes are not analyzed
- ⚠Large deletions/duplications may not be detected by standard NGS
- ⚠Variant interpretation may be limited by current scientific knowledge
- ⚠Not a substitute for clinical diagnosis or bone marrow evaluation for JMML
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 due to improper sample handling
- ●Contamination of sample
- ●Incomplete clinical information may affect interpretation
- ●Rare variants of uncertain significance may require additional testing
Compare With Similar Tests
| Test | CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test | RASopathy Panel | Whole Exome Sequencing | Single Gene Sanger Sequencing |
|---|---|---|---|---|
| Comparison | CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test |
Frequently Asked Questions
What is the cost of the CBL gene NGS genetic test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
What is Noonan syndrome-like disorder with or without JMML?
Can this test detect JMML?
Is genetic counseling included?
Is home sample collection available?
What does the test cost include?
Are there any risks associated with the test?
Can this test be done for prenatal diagnosis?
What if the result is a variant of uncertain significance?
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₹20,000Reference Laboratory Services
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