Test Price
2,800 AED✅ Home Collection Available
POLD1 Gene MDPL Syndrome NGS Test in UAE | 2800 AED | Genetic Diagnostics
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity confirmed by ISO 9001:2015 certified genetics laboratory.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection. Available daily from 8 AM to 11 PM.
Clinical Guidance: Post-test genetic counselling and result interpretation provided by Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403).
Insurance: Direct Billing Verification & pre-approval support via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The POLD1 gene Next-Generation Sequencing (NGS) test definitively diagnoses MDPL syndrome – a rare autosomal dominant disorder characterised by mandibular hypoplasia, sensorineural deafness, progeroid features, and lipodystrophy. This test is ordered by Paediatricians, Anti-Aging Specialists, and Medical Geneticists to guide clinical management and family planning. Testing is performed on whole blood or extracted DNA.
| Feature | Our NGS Test | Alternative (Sanger / WES) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity – full gene coverage (coding & splice sites) | ~98% for targeted Sanger; WES may miss deep intronic variants |
| Methodology | NGS with bioinformatic variant classification per ACMG guidelines | Sanger sequencing (single gene) or Whole Exome (broader but lower depth) |
| Turnaround Time | 3 to 4 Weeks | 4 to 8 Weeks for WES; Sanger 2 to 3 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I recognise the profound implications of a confirmed genetic syndrome diagnosis. This NGS test provides definitive molecular evidence, which must be carefully correlated with clinical findings and followed by comprehensive genetic counselling. Patients should never alter or discontinue prescribed therapies without consulting their primary physician.” — Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403)
Clinical Advisory & Safety Exclusion
Medication Warning: Do not discontinue any prescribed medication based solely on test results. Always consult your treating physician.
- Informed consent is mandatory prior to testing, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Test not indicated for asymptomatic minors without formal genetic counselling and legal guardian’s informed consent.
- Acute illness or metabolic crisis may temporarily postpone sample collection; consult our medical team.
Emergency Red Flags: Seek immediate emergency care if the patient develops sudden severe hearing loss, respiratory distress, or signs of acute pancreatitis (severe abdominal pain, vomiting).
Patient FAQ & Clinical Guidance
1. What is the POLD1 Gene MDPL Syndrome NGS test?
This NGS test analyzes the POLD1 gene to confirm a diagnosis of Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy (MDPL) syndrome with 99.9% sensitivity. It enables precise clinical management, family risk assessment, and access to specialist care.
2. Why is genetic counselling mandatory before this testing?
Genetic counselling ensures you fully understand the test’s implications, its impact on family members, the potential for incidental findings, and your rights under UAE healthcare law. It is a mandated prerequisite to protect your informed consent.
3. How is the sample collected, and what types are accepted?
A standard peripheral whole blood sample is collected via our VIP Mobile Phlebotomy service. Alternatively, extracted DNA or a buccal swab is accepted. Our temperature-controlled cold-chain logistics ensure specimen integrity from your home to our ISO-certified laboratory.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE Federal Law:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring your clinical safety and rights to informed consent.
DNA Labs UAE operates under DHA Facility License Number 1143, strictly adhering to these frameworks to guarantee your privacy and safety.
Clinical & Logistical Metadata
| Test Name | POLD1 Gene MDPL Syndrome NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Buccal Swab |
| Methodology Used | Next-Generation Sequencing (NGS) with ACMG Variant Classification |
| ICD-10-CM Code | E88.1, Q75.8, H90.3 |
| LOINC Code | 82307-3 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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