TCTN3 Gene Orofaciodigital syndrome type 4 NGS Genetic Test
Short Name: TCTN3 OFD4 NGS Test
Also known as: OFD4 Genetic Test, TCTN3 Gene Sequencing, Orofaciodigital Syndrome Type 4 NGS Panel
TCTN3 Gene Orofaciodigital syndrome type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation 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.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital Syndrome Type 4 by identifying pathogenic mutations in the TCTN3 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations.
- Test Code
- 5887
- CPT Code
- 81407
- ICD Code
- Q87.0
- 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), Sanger confirmation
Sample Collection
No special preparation is required. However, a clinical history and genetic counseling session is recommended prior to testing.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile technique. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital Syndrome Type 4 by identifying pathogenic mutations in the TCTN3 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations.
How to Prepare
- For blood: Use EDTA tube, fill to indicated mark, mix gently
- For FTA card: Apply one drop of blood to each circle, air dry for 30 minutes
- Label the sample with patient name, date, and unique ID
- Transport at room temperature within 24 hours
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for OFD4 is crucial for accurate diagnosis and family planning. NGS provides comprehensive coverage of the TCTN3 gene, ensuring high sensitivity for mutation detection."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay (>7 days) without refrigeration
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of OFD4. Genetic counseling recommended for family planning.
Likely pathogenic variant detected
Highly suggestive of OFD4; further functional studies may be needed.
Variant of uncertain significance (VUS)
Cannot confirm diagnosis; additional testing of family members may help classify the variant.
No pathogenic variant detected
Does not rule out OFD4; other genetic or non-genetic causes should be considered.
Consult a clinical geneticist or pediatrician if you or your child have features suggestive of OFD4, such as cleft lip/palate, digital anomalies, or developmental delay. Genetic counseling is recommended before and after testing.
Limitations
- ⚠This test detects mutations in the TCTN3 gene only; other genes causing OFD syndromes are not analyzed
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required
- ⚠Variants of uncertain significance (VUS) may be reported; further family studies may be needed
- ⚠Regulatory regions and deep intronic variants are not covered
- ⚠Test does not assess non-genetic causes of the phenotype
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for finding variants of uncertain significance
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Bone marrow transplantation can affect results
Compare With Similar Tests
| Test | TCTN3 Gene Orofaciodigital syndrome type 4 NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted OFD Panel | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | TCTN3 Gene Orofaciodigital syndrome type 4 NGS Genetic Test |
Frequently Asked Questions
What is Orofaciodigital Syndrome Type 4?
What does the TCTN3 gene do?
Who should get this test?
What is the cost of the test?
What sample is required?
How long does it take to get results?
Will I receive raw data files?
Is home sample collection available?
What does the report include?
Can this test be used for prenatal diagnosis?
Are there any risks?
Is the test NABL accredited?
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₹20,000Reference Laboratory Services
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