IRF6 Gene Orofacial cleft type 6 NGS Genetic Test
Short Name: IRF6 NGS
Also known as: IRF6 gene mutation test, Orofacial cleft genetic test, Cleft lip/palate NGS panel
IRF6 Gene Orofacial cleft type 6 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 available within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the IRF6 gene NGS genetic test is to identify pathogenic mutations in the IRF6 gene that are associated with orofacial cleft type 6. This test helps in confirming a clinical diagnosis, understanding the genetic cause, assessing recurrence risk in families, and guiding treatment and management strategies. It is also useful for genetic counseling and reproductive planning.
- Test Code
- 5884
- CPT Code
- 81408
- ICD Code
- Q37.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a finger-prick blood spot is applied to the card.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the IRF6 gene NGS genetic test is to identify pathogenic mutations in the IRF6 gene that are associated with orofacial cleft type 6. This test helps in confirming a clinical diagnosis, understanding the genetic cause, assessing recurrence risk in families, and guiding treatment and management strategies. It is also useful for genetic counseling and reproductive planning.
How to Prepare
- Ensure the patient's clinical history and pedigree chart are provided.
- For blood sample, use EDTA vacutainer and mix gently.
- For FTA card, allow the blood spot to dry completely before packaging.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the lab within 24-48 hours.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for IRF6 mutations is crucial for accurate diagnosis, recurrence risk assessment, and family planning. Early identification can guide surgical and multidisciplinary management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample not received within stability period
- FTA card with insufficient blood spots
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the genetic diagnosis of IRF6-related orofacial cleft. Recurrence risk for offspring is 50% if autosomal dominant. Genetic counseling is recommended.
Negative (No pathogenic variant detected)
No disease-causing mutation found in IRF6 gene. Other genetic or environmental causes may be considered. Recurrence risk may be lower but not zero.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing of family members may help classify the variant.
Consult a geneticist or pediatrician if you have a family history of orofacial clefts, if your child is born with a cleft, or if you are planning a pregnancy and have concerns about genetic risks.
Limitations
- ⚠This test only analyzes the IRF6 gene and does not rule out other genetic causes of orofacial clefts.
- ⚠Variant of uncertain significance (VUS) may be reported; further familial testing may be needed.
- ⚠Regulatory regions and deep intronic variants may not be covered.
- ⚠Not intended for prenatal diagnosis without prior genetic counseling.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS (may require additional testing)
- ●Mosaic variants may be missed
Compare With Similar Tests
| Test | IRF6 Gene Orofacial cleft type 6 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Sanger Sequencing | Multiplex Ligation-dependent Probe Amplification (MLPA) |
|---|---|---|---|---|---|
| Comparison | IRF6 Gene Orofacial cleft type 6 NGS Genetic Test | CMA detects copy number variations across the genome, while this NGS test focuses on single gene mutations in IRF6. CMA is useful for detecting large deletions/duplications, but may miss point mutations. | WES analyzes all coding regions of the genome, providing a broader scope. However, it is more expensive and may yield incidental findings. This targeted IRF6 test is more cost-effective for suspected IRF6-related clefts. | Sanger sequencing is the gold standard for single gene analysis but is labor-intensive and less efficient for large genes. NGS offers higher throughput and can detect mosaicism better. | MLPA is used to detect deletions/duplications in specific exons, which may not be detected by standard NGS. It can be used as a complementary test if NGS is negative. |
Frequently Asked Questions
What is the cost of the IRF6 gene NGS genetic test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Can this test be done during pregnancy?
What does a positive result mean?
What if the result is negative?
Is home sample collection available?
Will my insurance cover this test?
Can this test detect all types of orofacial clefts?
What is the role of genetic counseling?
How accurate is the NGS test?
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₹20,000Reference Laboratory Services
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