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SOX3 Gene Mental retardation, X-linked, with isolated growth hormone deficiency NGS Genetic Test

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SOX3 Gene Mental retardation, X-linked, with isolated growth hormone deficiency NGS Genetic Test

Short Name: SOX3 Gene NGS Genetic Test

Also known as: X-linked mental retardation with growth hormone deficiency, SOX3-related disorder, Mental retardation, X-linked 22

SOX3 Gene Mental retardation, X-linked, with isolated growth hormone deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the SOX3 Gene NGS Genetic Test is to detect genetic mutations in the SOX3 gene that cause mental retardation, X-linked, with isolated growth hormone deficiency. This helps in confirming diagnosis, guiding treatment strategies, and providing genetic counseling for affected individuals and their families.

Test Code
1714
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with the disease.

Method: Phlebotomy or blood drop

Step 2

Laboratory Analysis

Sample collected via blood draw or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as per instructions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session and provide medical history.
2
During the Test:Sample collection and lab processing.
3
After the Test:Receive reports and discuss results with a specialist.

About This Test

Who Should Get This Test

The purpose of the SOX3 Gene NGS Genetic Test is to detect genetic mutations in the SOX3 gene that cause mental retardation, X-linked, with isolated growth hormone deficiency. This helps in confirming diagnosis, guiding treatment strategies, and providing genetic counseling for affected individuals and their families.

How to Prepare

  • Fasting not required
  • Collect blood in EDTA tube or use FTA card
  • Label sample correctly with patient details
  • Transport at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for SOX3 gene mutations is crucial for managing X-linked mental retardation and growth hormone deficiency, enabling tailored interventions and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodPhlebotomy or blood drop

Sample Stability

Blood sample: stable at room temperature for 48 hours
FTA card: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrectly labeled or insufficient samples
  • Contaminated samples

Understanding Your Results

Results from the SOX3 Gene NGS Genetic Test indicate the presence or absence of pathogenic mutations. A positive result confirms a genetic diagnosis, while a negative result may require further testing.
Positive: Pathogenic variant detected - confirms diagnosis, refer for genetic counseling and management
Negative: No pathogenic variant detected - clinical correlation needed, consider other genetic tests
Variant of uncertain significance: Requires family studies and clinical assessment
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if test results are positive, or if symptoms persist despite negative results. Genetic counseling is recommended for all cases.

Limitations

  • ⚠May not detect all genetic variants, including large deletions or duplications
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Not a substitute for comprehensive clinical evaluation

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Potential psychological impact from results
  • ●Risk of uncertain findings requiring further evaluation

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Recent blood transfusion may affect results

Compare With Similar Tests

TestSOX3 Gene Mental retardation, X-linked, with isolated growth hormone deficiency NGS Genetic TestChromosomal Microarray AnalysisWhole Exome SequencingFISH for SOX3
ComparisonSOX3 Gene Mental retardation, X-linked, with isolated growth hormone deficiency NGS Genetic Test

Frequently Asked Questions

What is the SOX3 Gene NGS Genetic Test?
It is a Next-Generation Sequencing test to detect mutations in the SOX3 gene associated with X-linked mental retardation and isolated growth hormone deficiency.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with free home sample collection across India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are available in 3 to 4 weeks.
Is fasting required before the test?
No, fasting is not required.
Who should consider this test?
Individuals with symptoms like intellectual disabilities, delayed growth, or a family history of the condition.
What does a positive result mean?
A positive result confirms a genetic mutation in the SOX3 gene, indicating the disorder. Genetic counseling is recommended.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in many cities across India.
What is included in the test price?
The price includes sample collection, NGS analysis, genetic counseling, and a detailed clinical report.
Can the test be done for children?
Yes, the test is suitable for all ages, including children, with parental consent for minors.
Are raw data files provided with the report?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report for transparency.
What should I do after receiving the results?
Discuss the results with a geneticist or neurologist for further management and counseling.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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