CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy NGS Genetic Test
Short Name: CTDP1 Gene NGS Test (CCFDN)
Also known as: CCFDN, Cataracts with Facial Dysmorphism and Neuropathy, CTDP1-Related Neuropathy
CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are usually delivered within 3 to 4 weeks after the sample reaches 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 primary purpose of this test is to detect clinically significant mutations in the CTDP1 gene that are associated with Cataracts with Facial Dysmorphism and Neuropathy (CCFDN). Early diagnosis through genetic testing can help confirm the clinical suspicion, estimate recurrence risks in the family, and assist in medical surveillance and supportive care planning.
- Test Code
- 3940
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing confirmation
Sample Collection
No special preparation is required. No fasting is necessary. Maintain normal hydration. The patient should carry any previous clinical records or genetic test reports when available.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
A trained phlebotomist or nurse will collect a small amount of blood from the vein, or a drop of blood will be placed on an FTA card. The procedure is quick and generally safe.
Report Delivery
No specific post-test precautions are required. Patients may resume daily activities immediately after sample collection.
Timeline: Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to detect clinically significant mutations in the CTDP1 gene that are associated with Cataracts with Facial Dysmorphism and Neuropathy (CCFDN). Early diagnosis through genetic testing can help confirm the clinical suspicion, estimate recurrence risks in the family, and assist in medical surveillance and supportive care planning.
How to Prepare
- Blood should be collected in an EDTA vacutainer.
- FTA card must be properly labelled with patient details.
- Samples should be transported to the laboratory at room temperature.
- Send the clinical history and/or referral note along with the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For families affected by inherited conditions such as CCFDN, genetic testing plays a key role in confirming the diagnosis and enabling informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Insufficient blood volume or DNA yield
- Mislabeled or unlabeled sample
- Sample received in the wrong anticoagulant container
Understanding Your Results
Pathogenic variant detected
The test identified a disease-causing mutation in the CTDP1 gene, confirming the diagnosis of CCFDN in symptomatic individuals.
Variant of uncertain significance (VUS)
A DNA change was found, but its clinical significance is not yet known. Additional family testing or functional studies may be needed.
No pathogenic variant detected
No known disease-causing mutation was found in the CTDP1 gene. This reduces the likelihood of CTDP1-related CCFDN, but does not exclude it completely due to possible non-coding or structural variants.
If you or a family member have symptoms corresponding to cataracts, facial dysmorphism, or neuropathy, or if you have a known family history of CCFDN, consult a genetic specialist or neurologist. They can evaluate whether this genetic test is appropriate and provide counseling after the results.
Limitations
- ⚠This test only detects mutations in the CTDP1 gene and does not evaluate other genetic causes of cataracts or neuropathy.
- ⚠Variants of uncertain significance (VUS) may be reported, requiring further family studies for reclassification.
- ⚠Large deletion/duplication rearrangements may not be identified by NGS alone; additional methods such as MLPA may be needed.
- ⚠Genetic counseling is strongly recommended to understand the implications of results.
Risks & Considerations
- ●Minimal risk of minor bleeding, bruising, or infection at the blood draw site
- ●Emotional or psychological distress from receiving genetic test results
- ●Potential uncertainty in results (e.g., VUS)
- ●Insurance or family dynamic impact due to inherited results
Interfering Factors
- ●Insufficient or degraded DNA sample
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent bone marrow transplant (may affect blood-based DNA results)
Compare With Similar Tests
| Test | CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy NGS Genetic Test | Whole Exome Sequencing (WES) | Peripheral Neuropathy NGS Panel | Congenital Cataract Genetic Panel | Chromosomal Microarray (CMA) |
|---|---|---|---|---|---|
| Comparison | CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy NGS Genetic Test | NGS for CTDP1 gene is targeted and focused, whereas WES analyzes the exons of all genes. WES is more comprehensive but more expensive and may identify incidental findings. CTDP1 gene test is suitable when CCFDN is the primary suspicion. | A neuropathy panel tests multiple genes associated with peripheral neuropathy, including some metabolic and hereditary causes. CTDP1-specific test is more appropriate when the patient has cataracts and facial dysmorphism along with neuropathy. | This panel targets genes causing congenital cataracts, which may include CTDP1. If the clinical picture is predominantly cataracts, a panel may be considered; however, CTDP1 testing is focused on the specific syndrome. | CMA detects copy number variations across the genome, while NGS for CTDP1 detects point mutations and small indels. If CTDP1 NGS is negative but clinical suspicion is high, CMA can help identify deletions/duplications involving CTDP1. |
Frequently Asked Questions
What is the CTDP1 gene genetic test?
What is Cataracts with Facial Dysmorphism and Neuropathy (CCFDN)?
What is the cost of the CTDP1 gene NGS test at DNA Labs India?
What sample type is required for this test?
Is fasting required before the test?
How long does it take to get the test report?
Who should undergo this test?
How is the test performed?
Is home sample collection available?
What does a positive result mean?
What does a negative result mean?
Can this test help in prenatal diagnosis?
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