Test Price
2,800 AED✅ Home Collection Available
CEP290 Gene Senior-Loken Syndrome Type 6 Genetic Test in UAE | AED 2,800 | DHA Licensed
Executive Summary & Core Metrics
Test Overview & Methodology
This targeted CEP290 gene sequencing test identifies pathogenic and likely pathogenic variants associated with Senior-Loken syndrome type 6, an autosomal recessive ciliopathy characterized by nephronophthisis and progressive retinal degeneration. The assay covers all coding exons, intron-exon boundaries, and conserved splice-site regions with 99.9% analytical sensitivity.
| Feature | Our CEP290 NGS Test | Closest Alternative (Sanger / Partial Panel) |
|---|---|---|
| Precision | >99.9% sensitivity for all coding exons and splice sites with orthogonal confirmation | Limited to selected hotspots; may miss deep intronic or copy-number variants |
| Method | Illumina-based NGS with Sanger confirmation of all reportable variants | Sanger sequencing alone or restricted gene panel |
| Turnaround Time | 3–4 Weeks (Rigorously Validated) | 4–6 Weeks (Variable) |
| ICD-10-CM Code Integration | Q87.8 / H35.5 / Z14.8 included in clinical report | Limited or manual coding |
Physician Insight & Safety Protocols
“A confirmed molecular diagnosis of Senior-Loken syndrome type 6 requires correlation with renal function studies, retinal imaging, and a three-generation pedigree analysis. Absence of a CEP290 variant does not exclude other ciliopathy genes; comprehensive genetic counseling remains essential for at-risk families.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication & Clinical Continuity
Ongoing therapy with nephroprotective agents, antihypertensives, or vitamin A analogues for retinal degeneration should not be altered based on genetic test results alone. Always consult your treating nephrologist or ophthalmologist before making any medication changes. This test is a diagnostic adjunct, not a standalone treatment directive.
Exclusion Criteria & Emergency Red Flags
- This test is not recommended as a standalone screening tool without prior genetic counseling and family pedigree documentation.
- Individuals with acute febrile illness or blood transfusion within the past two weeks should defer sample collection to avoid interference.
- Incomplete or missing clinical records may delay report issuance and variant interpretation.
- Emergency red flags — sudden vision loss, severe hypertension with acute kidney injury, or unexplained oliguria require immediate medical evaluation; do not wait for genetic results.
Patient FAQ & Clinical Guidance
1. What is the purpose of the CEP290 gene test for Senior-Loken syndrome?
This molecular test detects pathogenic DNA mutations in the CEP290 gene to confirm a clinical diagnosis of Senior-Loken syndrome type 6 and guide multidisciplinary management involving nephrology and ophthalmology. A positive result clarifies the genetic etiology and informs recurrence risk for family planning.
2. How should I prepare, and can children be tested?
No fasting is required. A pre-test genetic counseling session is mandatory to construct a three-generation pedigree and obtain informed consent. Testing of minors requires parental consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability and the UAE Personal Data Protection Law.
3. What does a negative result mean, and will I need further tests?
A negative result indicates that no pathogenic variant was detected in the CEP290 gene regions analyzed. However, it does not exclude other genetic causes of nephronophthisis or retinal dystrophy. Your specialist may recommend broader ciliopathy panel testing, whole-exome sequencing, or renal and ophthalmic surveillance as clinically indicated.
4. How long does it take to receive results, and how are they delivered?
The standard turnaround time is 3 to 4 weeks from sample receipt. Results are delivered via a secure, encrypted clinical report with variant classifications according to ACMG/AMP guidelines. A telephonic post-test genetic counseling session is included to explain findings and next steps.
UAE Regulatory & Data Privacy Adherence
This testing service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is processed, stored, and analyzed exclusively within UAE borders under strict access controls and patient consent. The laboratory holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139) and adheres to DHA standards for diagnostic genetic testing.
Patient consent for genetic analysis is obtained in writing prior to sample collection, and all results are disclosed only to the ordering physician and the patient or legal guardian as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | CEP290 Gene Senior-Loken Syndrome Type 6 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (Rigorously Validated) |
| Sample Type / Matrix | Peripheral Whole Blood (2–4 mL in EDTA tube) |
| Methodology Used | Illumina-based Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q87.8, H35.5, Z14.8 |
| LOINC Code | 81301-3 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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