Test Price
2,800 AED✅ Home Collection Available
SEPSECS Gene Pontocerebellar Hypoplasia Type 2D Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation by a Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SEPSECS gene NGS test is a definitive molecular diagnostic for pontocerebellar hypoplasia type 2D, a severe early-onset neurodegenerative disorder. It identifies pathogenic variants with single-nucleotide resolution, enabling accurate clinical management, genetic counselling, and family risk assessment in the UAE.
| Feature | Our Test (SEPSECS NGS) | Closest Alternative (Broad Panel / WES) |
|---|---|---|
| Precision | Gene‑targeted deep sequencing; variant detection down to 1% allele frequency | Whole‑exome with lower coverage on GC‑rich regions; possible incidental findings |
| Methodology | Next Generation Sequencing (NGS) – ISO 9001:2015 validated panel with Sanger confirmation | NGS exome sequencing, often requiring secondary confirmation and longer interpretation |
| Turnaround Time | 3–4 Weeks (expedited reporting available) | 4–8 Weeks; variable depending on tertiary analysis |
Physician Insight & Safety Protocols
"As a medical geneticist, I deeply understand the uncertainty families face during the diagnostic journey of a child with developmental regression. This test offers a clear molecular answer that not only ends the diagnostic odyssey but also guides targeted therapy and accurate recurrence risk counselling. However, a genetic result must always be interpreted alongside the full clinical picture – no single test replaces the value of a thorough clinical and family history evaluation."
– Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA License: 9294403)
⚠️ Clinical Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients with uncontrolled coagulopathy (INR > 1.5), active systemic infection, or inability to provide a minimum 1 mL whole blood sample / FTA card.
- Emergency Red Flags (Seek Immediate Medical Attention): Acute respiratory failure, status epilepticus, severe dystonic crisis, or sudden loss of brainstem reflexes. This test is not for acute emergency diagnosis.
🛑 Important Medication Advisory
Do not discontinue any prescribed neurological or anti‑epileptic medication without consulting your treating physician. This test is a diagnostic tool and does not constitute a change in therapy plan.
Patient FAQ & Clinical Guidance
1. What is the SEPSECS Gene Pontocerebellar Hypoplasia Type 2D Test?
This NGS test detects pathogenic variants in the SEPSECS gene causing pontocerebellar hypoplasia type 2D with 99.9% sensitivity. It uses DNA extracted from blood, FTA card, or pre‑isolated DNA to sequence all coding regions. Positive results confirm the diagnosis, enabling targeted clinical management and precise genetic counselling for family members.
2. How should I prepare for the test, and what sample is required?
No fasting is required; simply provide one drop of blood on an FTA card or a standard whole blood tube collected by our mobile phlebotomist. A pre‑test genetic counselling session (included) will draw a detailed pedigree and review your clinical history. Avoid heparin anticoagulants if whole blood is drawn; EDTA tubes are preferred.
3. Is this test approved for minors, and what are the legal requirements in the UAE?
Yes, it is approved under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Law No. 2 of 2019 Concerning the Use of ICT in Health Fields, with mandatory parental consent and genetic counselling. All data is handled per UAE Federal Decree-Law No. 45 of 2021 (PDPL). The result is released only to the ordering physician or legal guardian. Judicial authorization may be required in specific circumstances for minors.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – All genomic data encrypted and processed solely within approved local servers.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Governs electronic health records and tele‑genetic counselling.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – Covers informed consent and professional responsibility for genetic testing.
- ISO 9001:2015 Certified Facility (Cert: INT/EGQ/2509DA/3139).
- DHA Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Your rights: Access, correction, and erasure of personal health data upon written request.
Clinical & Logistical Metadata
| Test Name | SEPSECS Gene Pontocerebellar Hypoplasia Type 2D Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (expedited reporting available) |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card (Dried Blood Spot) |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q04.8 (Pontocerebellar hypoplasia) |
| LOINC Code | 92618-6 (SEPSECS gene sequencing) |
| DHA Facility License & Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians