Skip to main content
DNA Labs India

IRF6 Gene van der Woude syndrome type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

IRF6 Gene van der Woude syndrome type 1 NGS Genetic Test

Short Name: IRF6 NGS Test

Also known as: IRF6 Gene Sequencing, Van der Woude Syndrome Genetic Test, VDWS1 NGS Panel

IRF6 Gene van der Woude 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 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS (Next-Generation Sequencing)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The primary purpose of this test is to confirm a clinical diagnosis of Van der Woude Syndrome Type 1 by identifying pathogenic mutations in the IRF6 gene. It also aids in carrier detection, prenatal diagnosis, and genetic counseling for at-risk family members. Early molecular confirmation can guide surgical planning, speech therapy, and dental management, improving long-term outcomes.

Test Code
5973
CPT Code
81408
ICD Code
Q38.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No restrictions. You can resume normal activities immediately.

Timeline: 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test.
2
During the Test:A blood sample is drawn or a fingerstick is performed for FTA card collection. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. Results will be available in 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose of this test is to confirm a clinical diagnosis of Van der Woude Syndrome Type 1 by identifying pathogenic mutations in the IRF6 gene. It also aids in carrier detection, prenatal diagnosis, and genetic counseling for at-risk family members. Early molecular confirmation can guide surgical planning, speech therapy, and dental management, improving long-term outcomes.

How to Prepare

  • Ensure the sample is collected in an EDTA vacutainer for blood.
  • 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 time of collection.
  • Transport the sample to the laboratory at ambient temperature.

Doctor's Notes

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

"Genetic testing for IRF6 mutations is crucial for accurate diagnosis and family planning. Early detection can significantly improve management of cleft lip/palate and associated anomalies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood: 24 hours at room temperature, 7 days at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: Stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The test report will indicate whether a pathogenic or likely pathogenic variant was identified in the IRF6 gene. If a variant is found, it confirms the diagnosis of Van der Woude Syndrome Type 1. If no variant is found, it does not rule out the condition, as other genetic or non-genetic causes may be responsible.
📊

Pathogenic variant detected

Confirms diagnosis of Van der Woude Syndrome Type 1. Genetic counseling recommended for family members.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed to clarify the significance.

📊

No pathogenic variant detected

Does not exclude VDWS1; consider testing other genes or clinical re-evaluation.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or genetic counselor if you or your child have symptoms suggestive of Van der Woude Syndrome, such as cleft lip/palate, lip pits, or dental anomalies. Also, if you have a family history of the condition, genetic testing and counseling are recommended before planning a pregnancy.

Limitations

  • ⚠This test detects mutations in the IRF6 gene only; other genes may cause similar phenotypes.
  • ⚠Variants of uncertain significance may be reported; further testing may be required.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be needed.
  • ⚠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 genetic results
  • ●Potential for variants of uncertain significance

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Incomplete clinical information

Compare With Similar Tests

TestIRF6 Gene van der Woude syndrome type 1 NGS Genetic TestChromosomal Microarray (CMA)Sanger SequencingWhole Exome Sequencing (WES)
ComparisonIRF6 Gene van der Woude syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is Van der Woude Syndrome Type 1?
Van der Woude Syndrome Type 1 is a rare genetic disorder characterized by cleft lip and/or palate, lower lip pits, and dental anomalies. It is caused by mutations in the IRF6 gene.
How is the IRF6 gene related to Van der Woude Syndrome?
The IRF6 gene provides instructions for a protein essential for craniofacial development. Mutations in this gene disrupt normal development, leading to the features of Van der Woude Syndrome.
What is the cost of the IRF6 NGS genetic test?
The test costs INR 20,000, which includes home sample collection, genetic counseling, and the NGS analysis.
What sample is required for this test?
A blood sample (2-3 ml in EDTA tube) or one drop of blood on an FTA card is required. Extracted DNA is also acceptable.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
Can this test be done during pregnancy?
Yes, prenatal testing can be performed using appropriate samples (e.g., amniotic fluid or chorionic villus) if there is a known familial mutation. Please consult your genetic counselor.
What does a positive result mean?
A positive result confirms the diagnosis of Van der Woude Syndrome Type 1 and allows for informed management and genetic counseling for the family.
What if the result is negative?
A negative result does not completely rule out Van der Woude Syndrome, as mutations in other genes or non-genetic causes may be responsible. Further evaluation may be recommended.
Are there any risks associated with the test?
The test is safe with minimal risks, such as slight bruising at the blood draw site. Genetic results may have psychological implications, which is why counseling is recommended.
How do I book this test?
You can book online through our website or call our customer care. Home sample collection will be scheduled at your convenience.
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.

Related Tests

KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test

₹20,000

CAT Gene Acatalasemia NGS Genetic Test

₹20,000

BLM Gene Bloom syndrome NGS Genetic Test

₹20,000

FANCC Gene Fanconi anemia type C NGS Genetic Test

₹20,000

TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test

₹20,000

PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test

₹20,000
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.

LIMS Integration

Your Data Privacy

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.