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FOXG1 Gene Rett syndrome, congenital variant NGS Genetic Test

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FOXG1 Gene Rett syndrome, congenital variant NGS Genetic Test

FOXG1 Gene Rett syndrome, congenital variant 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 3 to 4 weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To confirm the diagnosis of FOXG1 Gene Rett Syndrome congenital variant through comprehensive genetic analysis using NGS technology.

Test Code
2782
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or DNA extraction

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or DNA extraction from provided sample such as one drop blood on FTA card.

Step 3

Report Delivery

Sample sent to laboratory for analysis under ambient room temperature.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss clinical history and family pedigree.
2
During the Test:Sample collection and processing using NGS technology.
3
After the Test:Report generation and consultation with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To confirm the diagnosis of FOXG1 Gene Rett Syndrome congenital variant through comprehensive genetic analysis using NGS technology.

How to Prepare

  • No fasting required
  • Use sterile equipment for blood draw
  • Label sample correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early diagnosis through NGS testing is crucial for managing FOXG1-related disorders and improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or DNA extraction

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling or contamination

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FOXG1 gene, aiding in diagnosis.
Positive result: Pathogenic variant detected, confirming FOXG1 Gene Rett Syndrome.
Negative result: No variant detected, consider other genetic or clinical causes.
Variant of uncertain significance: Further testing or clinical evaluation may be needed.
⚠️ When to Consult a Doctor:

If symptoms of Rett Syndrome are present, or if genetic testing is recommended by a healthcare provider for diagnosis or family planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Minimal infection risk

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during sample collection

Frequently Asked Questions

What is FOXG1 Gene Rett Syndrome?
FOXG1 Gene Rett Syndrome is a rare genetic disorder caused by mutations in the FOXG1 gene, leading to brain development issues and intellectual and physical disabilities.
What are the symptoms of FOXG1 Gene Rett Syndrome?
Symptoms include loss of speech, intellectual disability, seizures, microcephaly, abnormal hand movements, and walking difficulties, typically appearing between 6-18 months of age.
How is FOXG1 Gene Rett Syndrome diagnosed?
Diagnosis involves symptom evaluation, medical history, neurological tests, and genetic testing such as NGS to confirm FOXG1 gene mutations.
What is the cost of the NGS Genetic Test in India?
The cost ranges from INR 20,000 to 30,000, with DNA Labs India offering it at INR 20,000 including home sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India provides free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the FOXG1 gene, confirming the diagnosis of FOXG1 Gene Rett Syndrome.
Can males be affected by FOXG1 Gene Rett Syndrome?
While more common in females, males can be affected, though it is rare.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
What is the congenital variant of Rett Syndrome?
The congenital variant presents with severe intellectual and physical disabilities from birth, unlike classic Rett Syndrome which symptoms appear later.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting genetic variants, but results should be correlated with clinical findings.
What should I do after receiving the test results?
Consult a healthcare professional or genetic counselor to discuss results, management options, and next steps.
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

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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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