DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic Test
Short Name: DDX59 NGS Test
Also known as: OFD5 Genetic Test, DDX59 Mutation Analysis, Orofaciodigital Syndrome Type 5 Sequencing
DDX59 Gene Orofaciodigital syndrome type 5 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 reaches the laboratory.. 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 purpose of the DDX59 NGS genetic test is to identify pathogenic mutations in the DDX59 gene that cause Orofaciodigital syndrome type 5. This test aids in confirming a clinical diagnosis, differentiating OFD5 from other ciliopathies, assessing recurrence risk for family planning, and enabling early management of associated anomalies. It is also useful for prenatal diagnosis in at-risk pregnancies when a familial mutation is known.
- Test Code
- 5885
- 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
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the test implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist using sterile techniques. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the DDX59 NGS genetic test is to identify pathogenic mutations in the DDX59 gene that cause Orofaciodigital syndrome type 5. This test aids in confirming a clinical diagnosis, differentiating OFD5 from other ciliopathies, assessing recurrence risk for family planning, and enabling early management of associated anomalies. It is also useful for prenatal diagnosis in at-risk pregnancies when a familial mutation is known.
How to Prepare
- Ensure the sample is collected in an EDTA vacutainer or on an FTA card as provided
- Label the sample with patient's full name, date of birth, and collection date
- If using FTA card, allow the blood spot to air dry completely before sealing
- Transport the sample to the laboratory within 24 hours at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of OFD5 is crucial for management and family counseling. NGS provides comprehensive analysis of DDX59 mutations."
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 OFD5. Genetic counseling and family screening recommended.
Likely pathogenic variant detected
Highly suggestive of OFD5. Further segregation analysis may be needed.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional testing of family members may help.
No pathogenic variant detected
Does not rule out OFD5. Consider testing other genes or alternative diagnoses.
Consult a clinical geneticist or pediatrician if you or your child have features suggestive of OFD5, such as cleft lip/palate, extra or fused digits, or facial dysmorphism. Also seek genetic counseling before and after testing.
Limitations
- ⚠This test does not detect large genomic rearrangements or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not exclude all genetic causes of OFD5; other genes may be involved
- ⚠Test is not intended for carrier screening in general population
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings (unrelated to OFD5)
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS (requires additional testing)
- ●Mosaic mutations may be missed
Compare With Similar Tests
| Test | DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted OFD Panel | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic Test | WES analyzes all coding regions of the genome, while this test focuses only on DDX59. WES is more comprehensive but costlier and may yield incidental findings. | A multi-gene panel includes DDX59 and other OFD-related genes. This test is more specific and cost-effective if OFD5 is strongly suspected. | CMA detects copy number variations but not single nucleotide variants. This NGS test is better for point mutations. |
Frequently Asked Questions
What is the cost of the DDX59 Gene OFD5 NGS Genetic Test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
What is Orofaciodigital syndrome type 5?
How is OFD5 diagnosed?
Can this test be done during pregnancy?
Are there any risks associated with the test?
Will insurance cover this test?
Do I need genetic counseling before the test?
What does a negative result mean?
Is home sample collection available?
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₹20,000Reference Laboratory Services
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