NSD1 Gene Sotos syndrome type 1 NGS Genetic Test
Short Name: NSD1 NGS Test
Also known as: Sotos Syndrome Genetic Test, NSD1 Mutation Analysis, Sotos Syndrome NGS Panel
NSD1 Gene Sotos 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 delivered 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 primary purpose of the NSD1 Gene Sotos Syndrome Type 1 NGS Genetic Test is to identify mutations in the NSD1 gene that are responsible for Sotos syndrome. This test is indicated for individuals presenting with clinical features suggestive of Sotos syndrome, including overgrowth, macrocephaly, distinctive facial dysmorphism, and developmental delay. Genetic confirmation is crucial for accurate diagnosis, prognosis, and genetic counseling. It also helps in differentiating Sotos syndrome from other overgrowth syndromes and guides appropriate medical management, including surveillance for associated complications such as scoliosis, cardiac anomalies, and tumors. Additionally, the test aids in family planning decisions by providing information about the recurrence risk for future pregnancies.
- Test Code
- 5934
- CPT Code
- 81407
- 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 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 the implications and obtain informed consent. Please bring any relevant medical records or family history information.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. If using FTA card, a simple fingerstick is performed. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the NSD1 Gene Sotos Syndrome Type 1 NGS Genetic Test is to identify mutations in the NSD1 gene that are responsible for Sotos syndrome. This test is indicated for individuals presenting with clinical features suggestive of Sotos syndrome, including overgrowth, macrocephaly, distinctive facial dysmorphism, and developmental delay. Genetic confirmation is crucial for accurate diagnosis, prognosis, and genetic counseling. It also helps in differentiating Sotos syndrome from other overgrowth syndromes and guides appropriate medical management, including surveillance for associated complications such as scoliosis, cardiac anomalies, and tumors. Additionally, the test aids in family planning decisions by providing information about the recurrence risk for future pregnancies.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- For blood collection, use an EDTA tube and mix gently.
- If using FTA card, apply one drop of blood to the designated circle and allow to dry.
- 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
"Early genetic confirmation of Sotos syndrome is crucial for timely intervention and management. This NGS test provides comprehensive analysis of the NSD1 gene, aiding in accurate diagnosis and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Sotos syndrome type 1. Genetic counseling is recommended for the family.
Action: Discuss management and surveillance plan with a specialist.
No pathogenic variant detected
Sotos syndrome type 1 is unlikely, but other genetic causes may be considered.
Action: Consider further genetic testing or evaluation by a geneticist.
Variant of uncertain significance (VUS)
The variant's clinical significance is unknown; additional testing may be needed.
Action: Follow up with genetic counseling and possible familial segregation studies.
Consult a doctor if your child shows signs of overgrowth, developmental delays, or distinctive facial features suggestive of Sotos syndrome. Early referral to a geneticist is recommended for proper evaluation and testing.
Limitations
- ⚠This test detects mutations in the NSD1 gene only; other genetic causes of Sotos-like phenotypes are not covered.
- ⚠Variants of uncertain significance may be reported; additional familial testing may be needed.
- ⚠NGS may not detect large deletions/duplications; separate analysis is included but may have limitations.
- ⚠Test 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 receiving genetic results
- ●Potential for variants of uncertain significance causing anxiety
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 | NSD1 Gene Sotos syndrome type 1 NGS Genetic Test | Chromosomal Microarray (CMA) | Sotos Syndrome Targeted Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | NSD1 Gene Sotos syndrome type 1 NGS Genetic Test | CMA detects copy number variations across the genome, but may miss single nucleotide variants in NSD1. NGS is more sensitive for point mutations. | A targeted panel may include NSD1 and other genes like NFIX, but NGS of NSD1 alone is more focused and cost-effective for Sotos syndrome. | WES covers all coding regions, but is more expensive and may identify incidental findings. NSD1 NGS is more targeted and faster. |
Frequently Asked Questions
What is Sotos syndrome?
How is Sotos syndrome diagnosed?
What is the cost of the NSD1 gene NGS test in India?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
Can the test be done at home?
What does a positive result mean?
What if the result is negative?
Are there any risks associated with the test?
Is genetic counseling included?
Which cities are covered for home sample collection?
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₹20,000Reference Laboratory Services
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