Test Price
2,800 AED✅ Home Collection Available
CTDP1 Gene Sequencing (Cataracts, Facial Dysmorphism, Neuropathy Syndrome) in UAE | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post-test genetic counselling with interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 (24/7 eligibility check under UAE PDPL).
- Price: 2800 AED inclusive of sample collection, sequencing analysis, and physician-reviewed clinical report.
Test Overview & Methodology
The CTDP1 DNA test screens all coding exons and flanking intronic regions using Next Generation Sequencing (NGS), delivering ultra-high depth of coverage exceeding 500× for confident detection of single nucleotide variants, small indels, and copy number changes linked to CTDP1-related syndrome (Congenital Cataracts, Facial Dysmorphism, and Neuropathy). A detailed clinical history and prior genetic counselling session are required to construct a pedigree chart of family members affected by CTDP1-associated cataracts, facial dysmorphism, or neuropathy. No fasting is necessary. Samples must avoid heparin-containing tubes.
| Feature | CTDP1 NGS Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Analytical Sensitivity | 99.9% (NGS with CNV calling) | ~95–98% (point mutations only) |
| Genome Coverage | Full gene + flanking regions, deep intronic hotspots | Limited to coding exons; may miss copy number variants |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Sample Type Flexibility | Blood, DNA, FTA card | Blood or DNA only |
Comparison based on standard reference methodology per DHA-accredited laboratory protocols.
Physician Insight & Safety Protocols
“CTDP1 gene sequencing provides a definitive molecular anchor for a rare but profoundly impactful syndrome. A positive result must never be interpreted in isolation; it requires integration with thorough neurological, ophthalmological, and dysmorphology assessments. I emphasise to every family that a variant of uncertain significance should not be considered diagnostic without functional validation or a strong phenotypic correlation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory on Medication Continuity
Medication Warning
Do not discontinue any prescribed medication—especially anti-epileptics, anti-spasticity agents, or steroids—without explicit consultation with your treating physician.
Exclusion Criteria & Emergency Red Flags
- Patients unable to provide a minimum of 1 mL of venous blood or a viable buccal sample.
- Inability or refusal to attend the mandatory pre-test genetic counselling session, as required by UAE law.
- Known active haematological malignancy or recent whole-body irradiation that may compromise DNA integrity; alternative sample timing advised.
- Seek immediate emergency care if you experience sudden vision loss, acute ataxia, respiratory difficulty, or severe new-onset muscle weakness prior to or after sample collection.
Patient FAQ & Clinical Guidance
1. What is the CTDP1 gene sequencing test used for?
This test identifies pathogenic variants in the CTDP1 gene responsible for Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN) syndrome. It confirms the molecular diagnosis, enables carrier testing, and informs recurrence risk counselling for families.
2. How long does the CTDP1 genetic test take and what factors affect turnaround time?
The standard reporting time is 3 to 4 weeks from the moment the sample arrives at our sequencing laboratory. Turnaround depends on DNA quality; suboptimal samples may require re-extraction adding up to 5 business days. Complex variants needing orthogonal Sanger confirmation also extend interpretation slightly.
3. Will insurance cover the 2800 AED cost for this advanced NGS test?
Yes, many UAE insurers offer coverage when the test is medically justified and pre-authorized through our billing department. Our team verifies eligibility directly with your provider via WhatsApp (+971 54 548 8731) before collection, requiring a physician referral letter and diagnosis code. Co-payment terms depend on your plan.
4. Can a negative CTDP1 result rule out the entire syndrome?
A negative result greatly reduces the probability of this specific syndrome but does not exclude other genetic or non-genetic causes. We recommend further evaluation through clinical genetics if symptoms persist; deep intronic variants or mutations in phenotypic overlap genes such as ERCC8 or ERCC6 could mimic the condition.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Framework
- Data Privacy: All patient data is processed exclusively under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Genetic data is classified as sensitive health information and is subject to enhanced security controls.
- Health Information Governance: Compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields ensures secure electronic health record handling and audited access logs.
- Medical Liability & Consent: All testing and counselling procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, including mandatory informed consent for genetic testing and familial disclosure.
- DHA Oversight: The laboratory operates under DHA Facility License Number 1143 and follows all Dubai Health Authority standards for genetic diagnostic services.
Clinical & Logistical Metadata
| Test Name | CTDP1 Gene Sequencing (Cataracts, Facial Dysmorphism, Neuropathy Syndrome) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 weeks from sample receipt at sequencing laboratory |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or FTA card. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next Generation Sequencing (NGS) with CNV calling, depth of coverage >500×, orthogonal Sanger confirmation for complex variants |
| ICD-10-CM Code | Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance), Q12.0 (Congenital cataract) |
| LOINC Code | 21618-3 (Genetic testing; for a specific gene mutation) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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