Test Price
2,800 AED✅ Home Collection Available
PLOD1 Gene Ehlers-Danlos Syndrome Type 6 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing (Cert: INT/EGQ/2509DA/3139).
- ✓Premium Home Collection – Hospital-grade, ISO-certified cold-chain phlebotomy (8 AM–11 PM) and VIP Mobile Phlebotomy.
- ✓Clinical Guidance – Complimentary telephonic post-test result interpretation by a DHA-licensed clinical advisor.
- ✓Insurance Direct Billing – Verify via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This PLOD1 gene NGS test detects pathogenic variants in the PLOD1 gene responsible for Ehlers-Danlos syndrome type 6 (kyphoscoliotic type), enabling definitive molecular diagnosis using next-generation sequencing on the Illumina platform with Sanger confirmation.
| Feature | Our PLOD1 NGS Test | Closest Alternative (Sanger / WES) |
|---|---|---|
| Precision | Full gene sequencing with >99% coverage; detects all substitution, indel, and copy number variants | Single‑site or limited exon analysis; may miss novel or deep intronic mutations |
| Methodology | Next‑Generation Sequencing (Illumina® platform) with Sanger confirmation | Sanger sequencing (targeted) or Whole Exome (lower depth, higher cost) |
| Turnaround Time | 3–4 weeks | 4–8 weeks (Sanger) or 8–12 weeks (WES) |
| Clinical Utility | Gold standard for diagnosis, family screening, and EDS type‑6 subtyping | Often inconclusive or requires reflex to NGS; not optimal for kyphoscoliotic type |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): “I understand the worry that comes with unexplained joint hypermobility, fragile skin, or a family history of connective tissue disorders. This test offers a clear genetic answer, but it must always be interpreted alongside your complete clinical picture and managed by a multidisciplinary team—never as a standalone verdict.”
Medication & Clinical Safety Notice
Do not discontinue any prescribed medication without consulting your doctor. Genetic test results do not replace ongoing medical management or emergency care.
Safety Exclusion Criteria & ER Red Flags
- Exclusion Criteria: This test is not performed on individuals under 18 without court‑appointed guardian consent; not validated for deceased individuals or forensic samples; not intended for acute diagnostic emergencies.
- Emergency Red Flags: If you experience sudden severe joint dislocations, unexplained internal bleeding, acute chest/abdominal pain, or vision loss, proceed immediately to the nearest hospital emergency department. This genetic test does not provide real-time clinical guidance.
Patient FAQ & Clinical Guidance
1. What does the PLOD1 gene test diagnose?
This PLOD1 genetic test definitively diagnoses Ehlers-Danlos syndrome type 6 by identifying pathogenic mutations in the PLOD1 gene, enabling targeted clinical management and family genetic counselling.
2. Why choose NGS over traditional sequencing for PLOD1?
Next‑Generation Sequencing provides full comprehensive analysis of the entire PLOD1 coding region in a single test, delivering superior variant detection and reducing the need for multiple follow‑up assays.
3. What are the sample requirements and turnaround time?
Acceptable samples include whole blood (EDTA), extracted DNA, or a single drop of blood on an FTA card; results are delivered within 3 to 4 weeks from receipt at our ISO‑certified laboratory.
UAE Regulatory & Data Privacy Adherence
UAE Regulatory Compliance & Patient Rights
This service is delivered in strict accordance 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. Your genetic data is processed locally with end‑to‑end encryption; no samples or results are transferred outside UAE without explicit consent. For genetic counselling appointments or insurance billing, contact +971 54 548 8731 (WhatsApp).
Clinical & Logistical Metadata
| Test Name | PLOD1 Gene Ehlers-Danlos Syndrome Type 6 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (Illumina) with Sanger confirmation |
| ICD-10-CM Code | Q79.62 (Kyphoscoliotic Ehlers-Danlos syndrome) |
| LOINC Code | 94829-6 (PLOD1 gene mutation analysis) |
| 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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