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FOXF2 Gene Disorders of sex development with cleft palate NGS Genetic Test

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FOXF2 Gene Disorders of sex development with cleft palate NGS Genetic Test

Short Name: FOXF2 DSD with Cleft Palate NGS Test

Also known as: FOXF2-related DSD with cleft palate genetic test

FOXF2 Gene Disorders of sex development with cleft palate 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.

Gynecology🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Disorders of Sex Development with Cleft Palate caused by mutations in the FOXF2 gene using NGS technology, facilitating early intervention and personalized treatment plans.

Test Code
5526
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 detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with FOXF2 gene disorders.

Step 2

Laboratory Analysis

Sample collection via blood draw or FTA card as per standard protocols.

Step 3

Report Delivery

Store samples at ambient room temperature and transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider, provide clinical history, and undergo genetic counseling.
2
During the Test:Sample collection is minimally invasive, typically involving a blood draw.
3
After the Test:Results are available online; follow-up with a geneticist or specialist for interpretation and management.

About This Test

Who Should Get This Test

To diagnose Disorders of Sex Development with Cleft Palate caused by mutations in the FOXF2 gene using NGS technology, facilitating early intervention and personalized treatment plans.

How to Prepare

  • Use sterile equipment for blood collection
  • For FTA card, apply one drop of blood and air dry
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is crucial for early diagnosis and management of FOXF2-related disorders, aiding in personalized care plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FOXF2 gene. Positive results confirm diagnosis, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of FOXF2-related Disorders of Sex Development with Cleft Palate. Genetic counseling and specialist referral recommended.

📊

Negative for pathogenic variant

No mutations detected in the FOXF2 gene. Clinical symptoms may be due to other genetic or environmental factors; further evaluation advised.

📊

Variant of uncertain significance

Genetic variant identified but clinical significance unknown. Repeat testing or family studies may be necessary.

⚠️ When to Consult a Doctor:

If symptoms such as ambiguous genitalia, cleft palate, or other associated abnormalities are present, or if there is a family history of DSD.

Limitations

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

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection

Frequently Asked Questions

What is the FOXF2 Gene?
The FOXF2 gene is located on chromosome 6 and codes for a transcription factor involved in the development of the palate and lungs. Mutations in this gene are associated with Disorders of Sex Development with Cleft Palate.
What are Disorders of Sex Development with Cleft Palate?
These are conditions where sex development is atypical, often with ambiguous genitalia, and accompanied by a cleft palate, which is a split in the roof of the mouth.
What are the symptoms of DSD with Cleft Palate?
Symptoms include ambiguous genitalia, cleft palate, delayed puberty, difficulty breathing, feeding issues, hearing loss, and skeletal abnormalities.
How is DSD with Cleft Palate diagnosed?
Diagnosis involves physical examination, medical history, and genetic testing such as NGS to identify mutations in genes like FOXF2.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is an advanced genetic testing method that sequences multiple genes simultaneously, providing comprehensive and accurate results for conditions like DSD.
What is the cost of the FOXF2 Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What samples are required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Who should consider this test?
Individuals with symptoms of DSD or cleft palate, or those with a family history of FOXF2 gene disorders, should consider this test.
What are the treatment options for DSD with Cleft Palate?
Treatment is multidisciplinary, including surgical interventions for cleft palate, hormone therapy, and genetic counseling for management of DSD.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting genetic variants, but results should be interpreted in conjunction with clinical findings by a healthcare professional.
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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✓ 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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