SHOC2 Gene Noonan syndrom like NGS Genetic Test
Short Name: SHOC2 NGS Test
Also known as: SHOC2 Gene Mutation Test, Noonan Syndrome NGS Panel, SHOC2 Sequencing
SHOC2 Gene Noonan syndrom like 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 test is to confirm or rule out a diagnosis of Noonan syndrome-like disorder caused by mutations in the SHOC2 gene. It is indicated for individuals with clinical features suggestive of Noonan syndrome, including short stature, characteristic facial dysmorphism, cardiac abnormalities, and developmental delay. Genetic confirmation helps in guiding clinical management, surveillance for associated complications, and providing accurate recurrence risk for family planning.
- Test Code
- 5867
- 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
- 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 clinical history and genetic counseling session is recommended before the test to draw a pedigree chart and discuss the implications.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood will be placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample will be transported to the laboratory for processing.
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 test is to confirm or rule out a diagnosis of Noonan syndrome-like disorder caused by mutations in the SHOC2 gene. It is indicated for individuals with clinical features suggestive of Noonan syndrome, including short stature, characteristic facial dysmorphism, cardiac abnormalities, and developmental delay. Genetic confirmation helps in guiding clinical management, surveillance for associated complications, and providing accurate recurrence risk for family planning.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- For blood collection, use an EDTA tube and mix gently.
- 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 at ambient temperature within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for SHOC2 mutations is crucial for confirming Noonan syndrome-like presentations, guiding 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 transit time without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the diagnosis of Noonan syndrome-like disorder. Genetic counseling is recommended for the family.
Action: Discuss management and surveillance with a clinical geneticist.
Negative (No pathogenic variant detected)
No disease-causing mutation found in SHOC2 gene. Other genetic causes should be considered.
Action: Consider testing other RASopathy genes or referral for further evaluation.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown.
Action: Further family studies and functional analysis may be needed.
Consult a clinical geneticist or pediatrician if you or your child have symptoms suggestive of Noonan syndrome, such as short stature, facial dysmorphism, heart defects, or developmental delay. Early diagnosis can lead to better management.
Limitations
- ⚠This test only analyzes the SHOC2 gene; mutations in other genes associated with Noonan syndrome (e.g., PTPN11, SOS1, RAF1) will not be detected.
- ⚠Variant of uncertain significance (VUS) may be reported; further familial segregation analysis may be required.
- ⚠This test does not detect large chromosomal rearrangements or epigenetic changes.
- ⚠Negative result does not exclude a clinical diagnosis of Noonan syndrome if other genes are involved.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for finding variants of uncertain significance
Interfering Factors
- ●Poor sample quality or quantity
- ●Contamination during sample collection
- ●Incomplete clinical information
- ●Presence of maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | SHOC2 Gene Noonan syndrom like NGS Genetic Test | PTPN11 Gene NGS Test | RASopathy Panel (Multiple Genes) | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | SHOC2 Gene Noonan syndrom like NGS Genetic Test |
Frequently Asked Questions
What is the cost of the SHOC2 gene NGS genetic test?
What sample is required for the SHOC2 gene test?
How long does it take to get the results?
Is fasting required before the test?
Will I receive raw data files?
What is Noonan syndrome?
What are the common symptoms of Noonan syndrome?
Can this test detect all genetic causes of Noonan syndrome?
Is home sample collection available?
What is the role of genetic counseling in this test?
What does a positive result mean?
Are there any risks associated with the test?
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