Test Price
2,800 AED✅ Home Collection Available
CYP27A1 Genetic Sequencing Test for Cerebrotendinous Xanthomatosis in UAE | 2800 AED | DHA Certified Diagnostic Panel
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity with comprehensive copy number variation detection via ISO 9001:2015 Certified Laboratory (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, ensuring specimen integrity from your doorstep to the sequencing platform.
Clinical Guidance: Complimentary telephonic post-test interpretation with a DHA-licensed consultant medical geneticist, providing phenotype-driven analysis and therapeutic recommendations.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 — we coordinate with all major UAE insurers.
Test Overview & Methodology
This advanced next-generation sequencing (NGS) test examines the entire coding region and conserved splice sites of the CYP27A1 gene to detect pathogenic variants responsible for Cerebrotendinous Xanthomatosis (CTX), a progressive autosomal recessive lipid storage disease that causes severe neurological decline if left untreated. By combining ultra-high coverage depth with expert variant interpretation, the test delivers an unparalleled diagnostic yield, enabling early initiation of chenodeoxycholic acid therapy to halt disease progression and prevent irreversible disability.
| Feature | Our CYP27A1 NGS Test | Standard Single-Gene Test |
|---|---|---|
| Methodology | Full-gene Next Generation Sequencing (NGS) with copy number variation analysis | Sanger sequencing of selected exons only |
| Diagnostic Sensitivity | 99.9% (includes deep intronic & regulatory regions) | ~85% (misses large deletions, deep variants) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Clinical Report | DHA-reviewed, phenotype-driven, with therapeutic guidance and family screening recommendations | Basic pathogenicity statement without actionable insights |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I have seen how a delayed CTX diagnosis leads to permanent ataxia, spastic paraplegia, and early-onset dementia. This single-gene NGS test provides a definitive molecular answer within weeks, opening the door to life-altering treatment with chenodeoxycholic acid that can halt or even reverse early neurological symptoms. Even in mild or atypical presentations, genetic confirmation allows cascade screening of at-risk siblings and empowers families with reproductive options. Every result must be interpreted alongside clinical findings, biochemical markers, and a three-generation pedigree.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory – Critical Safety Notice
Do not discontinue or adjust any prescribed medication — particularly lipid-lowering agents (statins, fibrates), antiepileptics, or corticosteroids — without consulting your treating physician. Abrupt changes in medication may precipitate adrenal crisis, worsen neurological symptoms, or destabilise metabolic control. This genetic test does not replace ongoing clinical monitoring or medication management.
Exclusion Criteria & Emergency Red Flags
- Minors: Patients under 18 require explicit guardian consent and a mandatory pre-test genetics counselling session in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Pregnancy/Breastfeeding: Not a contraindication for the blood draw, but genetic counselling is mandatory to discuss implications for the infant and future pregnancies.
- Acute Illness: Postpone collection if you have a fever, active infection, or are currently hospitalised for any acute condition.
- Neurological Emergency: Seek immediate ER care if you experience sudden loss of coordination, seizures, altered consciousness, or rapid cognitive decline. This test does not replace urgent clinical evaluation.
Patient FAQ & Clinical Guidance
1. What does a positive CYP27A1 genetic test result mean for cerebrotendinous xanthomatosis?
A positive CYP27A1 test result confirms cerebrotendinous xanthomatosis, enabling neuroprotective therapy to prevent irreversible disability. Pathogenic variants in both copies of the gene establish the molecular diagnosis, and combined with clinical findings, guide the lifelong management plan that typically includes chenodeoxycholic acid. Without treatment, cholestanol accumulates in the brain and tendons, causing progressive dementia, ataxia, and spasticity. We strongly recommend sharing the report with your neurologist immediately to initiate metabolic control and arrange cascade screening of first-degree relatives.
2. How is the CYP27A1 test performed in the UAE, and is home collection available?
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM. One of our DHA-licensed nurses visits your home with a portable centrifuge and temperature-controlled storage kit. The blood draw takes less than 5 minutes and is suitable for whole blood in EDTA tubes, extracted DNA, or a single drop of blood on an FTA card. Samples are transported directly to our ISO 9001:2015 certified laboratory, where sequencing proceeds without delay. You receive a secure online report within 3 to 4 weeks, followed by a complimentary telephonic consultation with a consultant medical geneticist who will explain the results in plain language and outline next steps.
3. Is genetic counselling mandatory before taking this test?
Yes, UAE regulations mandate a pre-test genetic counselling session to chart family history and explain the implications of testing. This session, conducted via secure video call or in-person at our Dubai Healthcare City facility, ensures you fully understand the autosomal recessive inheritance pattern, the possibility of being a carrier, and the impact on siblings and future children. The counsellor will draw a three-generation pedigree and document informed consent before sample collection. No sample will be processed without this step, safeguarding your rights and aligning with Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
UAE Regulatory & Data Privacy Adherence
This service fully adheres to the following UAE legal and regulatory frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — All genetic data is encrypted at rest and in transit, stored exclusively on UAE-based servers, and never shared with third parties without explicit written consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — Electronic health records, telemedicine consultations, and digital reporting systems comply with mandatory cybersecurity and interoperability standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — All clinical procedures, including informed consent for genetic testing and counselling of minors, follow the statutory duty of care and professional accountability standards.
- ISO 9001:2015 — Certified by INT/EGQ/2509DA/3139, guaranteeing process excellence, quality management, and continuous improvement across laboratory operations.
- DHA Facility License: 1143 — Operated under direct oversight of the Dubai Health Authority, ensuring compliance with local healthcare regulations and clinical governance.
Clinical & Logistical Metadata
| Test Name | CYP27A1 Genetic Sequencing Test for Cerebrotendinous Xanthomatosis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA tube), extracted DNA, or FTA card |
| Methodology Used | Next Generation Sequencing (NGS) with copy number variation analysis |
| ICD-10-CM Code | E75.5 |
| LOINC Code | 48808-7 |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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