Test Price
2,800 AED✅ Home Collection Available
CEP290 Gene Meckel Syndrome Type 4 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Diagnostic confidence for CEP290-related ciliopathy with 99.9% sensitivity via NGS technology.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance in result interpretation with genetic counselor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CEP290 gene sequencing test identifies pathogenic variants causing Meckel syndrome type 4, an autosomal recessive ciliopathy affecting the kidneys, liver, and endocrine system. This test empowers early diagnosis and informed family planning through comprehensive genomic analysis of the CEP290 gene.
Why Choose NGS Over Alternative Methods
| Feature | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Precision | Full gene coverage by NGS | Sanger hotspot panels (limited) |
| Methodology | Next Generation Sequencing (NGS) | Sanger Sequencing |
| Speed | 3–4 Weeks | 6–8 Weeks |
| Diagnostic Sensitivity | >99.9% | ~85% |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA ID: 9294403: As a consultant in medical genetics, I emphasize that a positive CEP290 result confirms Meckel syndrome type 4, but clinical correlation with renal, hepatic, and endocrine phenotypes is essential. Genetic counseling is mandatory before testing to discuss inheritance patterns, recurrence risks, and potential outcomes. This test should never replace regular specialist follow-up or routine clinical monitoring.
Advisory & Medication Guidance
Do not discontinue prescribed medication without consulting your doctor. This genetic test is a diagnostic aid, not a substitute for ongoing medical management or specialist-directed therapy.
Patient Safety & Exclusion Criteria
- Exclusion Criteria: Inability to provide informed consent; active severe infection or hemodynamic instability that precludes blood draw; recent allogeneic blood transfusion (may interfere with germline DNA).
- Emergency Red Flags (Seek immediate care if): Sudden onset of severe abdominal pain (possible renal cyst rupture), jaundice with confusion, or respiratory distress in a known MKS patient.
- This test is not validated for prenatal diagnosis without confirmatory amniocentesis; consult a high-risk obstetrician.
Patient FAQ & Clinical Guidance
1. What is the purpose of CEP290 gene sequencing for Meckel syndrome type 4?
This test identifies DNA mutations in the CEP290 gene to confirm Meckel syndrome type 4 diagnosis, enabling precise genetic counseling, family planning, and early intervention strategies for affected individuals.
2. What sample type is required and how is it collected in the UAE?
A blood sample (whole blood) is collected via VIP mobile phlebotomy under strict temperature-controlled cold-chain logistics. Our DHA-licensed nurse ensures minimal discomfort and maximum sample integrity from your home or office.
3. How long until results are available, and who interprets them?
Results are ready within 3–4 weeks from sample receipt. A telephonic post-test clinical guidance session with a genetic specialist is included to explain findings, discuss implications, and outline next steps for you and your family.
4. Is genetic counseling provided before and after testing?
Yes, genetic counseling is mandatory before testing to discuss inheritance patterns, recurrence risks, and the implications of a positive or negative result. Post-test counseling is included to help you understand your results and make informed decisions.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and adheres to all applicable UAE federal laws governing medical testing and patient data protection.
- Data Protection: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring all genetic data is processed lawfully, stored securely, and never shared without explicit patient consent.
- Health Data Security: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, governing the secure handling of electronic health records and genomic data.
- Medical Liability & Patient Consent: All testing procedures follow the standards established under Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring transparent informed consent processes and clinical accountability.
- Accreditation: ISO 9001:2015 certified laboratory processes with rigorous quality control measures.
Clinical & Logistical Metadata
| Test Name | CEP290 Gene Sequencing for Meckel Syndrome Type 4 (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM–11 PM |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | Q61.8 (Other cystic kidney diseases – Meckel syndrome type 4) |
| LOINC Code | 82939-0 (CEP290 gene mutations detected in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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