NECTIN1 Gene Orofacial cleft type 7 NGS Genetic Test
Short Name: NECTIN1 Cleft NGS
Also known as: NECTIN1 Gene Mutation Test, Orofacial Cleft Type 7 Genetic Test, Cleft Lip/Palate NGS Panel
NECTIN1 Gene Orofacial cleft type 7 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 Results are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
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 orofacial cleft type 7 by identifying pathogenic mutations in the NECTIN1 gene. It also aids in carrier detection, prenatal diagnosis in at-risk pregnancies, and genetic counseling for affected families. The test helps differentiate type 7 from other cleft syndromes, enabling personalized management and recurrence risk assessment.
- Test Code
- 5883
- 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
- Results are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history and genetic counseling session are recommended before the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific precautions. The sample is sent to the laboratory for analysis.
Timeline: Results are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm a clinical diagnosis of orofacial cleft type 7 by identifying pathogenic mutations in the NECTIN1 gene. It also aids in carrier detection, prenatal diagnosis in at-risk pregnancies, and genetic counseling for affected families. The test helps differentiate type 7 from other cleft syndromes, enabling personalized management and recurrence risk assessment.
How to Prepare
- Ensure the patient's identity is verified
- Use sterile EDTA tube for blood collection
- If using FTA card, apply one drop of blood and air dry
- Label the sample with patient details and date
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of orofacial cleft type 7 enables timely surgical and multidisciplinary intervention, improving long-term outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (pathogenic variant detected)
Confirms diagnosis of orofacial cleft type 7. Genetic counseling and family screening recommended.
Negative (no pathogenic variant)
No mutation in NECTIN1 gene. Other genetic or environmental causes may be considered.
Variant of uncertain significance (VUS)
A variant was found but its clinical significance is unclear. Further testing or family studies may be needed.
Consult a clinical geneticist or pediatrician if the test result is positive or if you have concerns about cleft anomalies in your child.
Limitations
- ⚠This test only analyzes the NECTIN1 gene; other genes may also cause orofacial clefts
- ⚠Regulatory regions and deep intronic variants may not be detected
- ⚠Large deletions/duplications may not be identified by standard NGS
- ⚠Variant interpretation may require additional family studies
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Poor DNA quality or quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants of uncertain significance may require further analysis
Compare With Similar Tests
| Test | NECTIN1 Gene Orofacial cleft type 7 NGS Genetic Test | Orofacial Cleft Comprehensive Panel | Chromosomal Microarray (CMA) |
|---|---|---|---|
| Comparison | NECTIN1 Gene Orofacial cleft type 7 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the NECTIN1 gene orofacial cleft type 7 NGS test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Will I receive raw data files?
Can this test be done during pregnancy?
What does a positive result mean?
Are there any risks associated with the test?
Is home sample collection available?
Do I need a doctor's prescription?
Can this test detect all types of orofacial clefts?
What is the turnaround time for reports?
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₹20,000Reference 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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✓ 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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