C2CD3 Gene Orofaciodigital syndrome type 14 NGS Genetic Test
Short Name: C2CD3 OFD14 NGS Test
Also known as: OFD14 Genetic Test, C2CD3 Gene Sequencing, Orofaciodigital Syndrome Type 14 NGS Panel
C2CD3 Gene Orofaciodigital syndrome type 14 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital syndrome type 14 by identifying mutations in the C2CD3 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations.
- Test Code
- 5886
- 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)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss implications.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.
Report Delivery
No restrictions. The sample is sent to the laboratory for analysis.
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 14 by identifying mutations in the C2CD3 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
- Use EDTA vacutainer for blood collection
- For FTA card, ensure the blood spot is completely dried before packaging
- Label the sample with patient ID and date of collection
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of OFD14 is crucial for management and family counseling. This NGS test provides a definitive diagnosis, enabling timely intervention and recurrence risk assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of OFD14. Autosomal recessive inheritance. Both parents are likely carriers.
Likely pathogenic variant detected
Highly suggestive of OFD14; further family studies may be recommended.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing or family segregation analysis may be needed.
No pathogenic variant detected
No mutation found in C2CD3 gene; consider other genetic causes if symptoms persist.
Consult a clinical geneticist or pediatrician if you or your child have features suggestive of OFD14, or if there is a family history of the condition. Genetic counseling is recommended before and after testing.
Limitations
- ⚠This test only analyzes the C2CD3 gene; other genes associated with OFD syndromes are not covered.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be needed.
- ⚠Test does not assess non-coding regulatory regions.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplant (may affect results)
Compare With Similar Tests
| Test | C2CD3 Gene Orofaciodigital syndrome type 14 NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | C2CD3 Gene Orofaciodigital syndrome type 14 NGS Genetic Test | WES covers all coding regions of the genome, including C2CD3, but is more expensive and time-consuming. This targeted NGS test is cost-effective for suspected OFD14. | CMA detects copy number changes but does not identify single nucleotide variants. This test is specific for C2CD3 mutations. | Sanger is used for confirmation of specific variants but is not efficient for large genes. NGS is preferred for comprehensive analysis. |
Frequently Asked Questions
What is Orofaciodigital syndrome type 14?
How is the C2CD3 gene test performed?
What is the cost of the test?
How long does it take to get results?
Is home sample collection available?
What sample types are accepted?
Do I need to fast before the test?
Can this test detect all types of OFD syndromes?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Can this test be used for prenatal diagnosis?
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₹20,000Reference Laboratory Services
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