NFIX Gene Sotos-like syndrome NGS Genetic Test
Short Name: NFIX NGS Test
Also known as: NFIX Gene Sequencing, Sotos-like Syndrome Genetic Test, NFIX Mutation Analysis
NFIX Gene Sotos-like syndrome 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 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 identify pathogenic variants in the NFIX gene that cause Sotos-like syndrome. This helps confirm a clinical diagnosis, differentiate it from other overgrowth syndromes, and enable early intervention and genetic counseling for affected individuals and their families.
- Test Code
- 5935
- CPT Code
- 81406
- ICD Code
- Q87.3
- 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 sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the test and draw a pedigree chart.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically delivered 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 identify pathogenic variants in the NFIX gene that cause Sotos-like syndrome. This helps confirm a clinical diagnosis, differentiate it from other overgrowth syndromes, and enable early intervention and genetic counseling for affected individuals and their families.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- For blood collection, use EDTA vacutainer 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 unique ID.
- Transport the sample at ambient temperature to the laboratory within 48 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of NFIX mutations enables tailored management of growth and developmental issues, improving long-term outcomes."
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
Positive (Pathogenic variant detected)
Confirms diagnosis of Sotos-like syndrome. Genetic counseling and family screening are recommended.
Negative (No pathogenic variant detected)
NFIX-related Sotos-like syndrome is unlikely. Consider testing other genes (e.g., NSD1) or other diagnostic approaches.
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 Sotos-like syndrome, such as overgrowth, developmental delays, or distinctive facial features, consult a pediatrician or geneticist for evaluation and possible genetic testing.
Limitations
- ⚠This test detects mutations in the NFIX gene only; other genes causing similar phenotypes are not analyzed.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant interpretation may be limited by current scientific knowledge.
- ⚠Genetic counseling is recommended to understand results and implications.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●No significant medical risks associated with the test
- ●Psychological impact of results, which is mitigated by genetic counseling
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants of uncertain significance may require further analysis
Compare With Similar Tests
| Test | NFIX Gene Sotos-like syndrome NGS Genetic Test | NSD1 Gene Sequencing (Sotos Syndrome) | Overgrowth Syndromes NGS Panel | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | NFIX Gene Sotos-like syndrome NGS Genetic Test |
Frequently Asked Questions
What is Sotos-like syndrome?
How is the NFIX gene test performed?
What is the cost of the NFIX gene test at DNA Labs India?
How long does it take to get results?
Is fasting required before the test?
What sample types are accepted?
Can the test be done at home?
What does a positive result mean?
What does a negative result mean?
Are there any risks associated with the test?
Is genetic counseling included?
Can this test be used for prenatal diagnosis?
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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