Test Price
2,800 AED✅ Home Collection Available
PLP1 Gene Sequencing for Hereditary Spastic Paraplegia Type 2 (SPG2) via Next‑Generation Sequencing in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity for PLP1 pathogenic variant detection via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited processing.
- Premium Logistics: VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection available daily 8 AM–11 PM across all UAE emirates.
- Clinical Guidance: Post‑test telephonic genetic counselling with a board‑certified consultant medical geneticist for comprehensive result interpretation.
- Insurance & Billing: Direct billing verification with major UAE insurers via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PLP1/SPG2 NGS test employs Illumina‑based next‑generation sequencing to comprehensively analyse all coding exons and intron‑exon boundaries of the PLP1 gene. Pathogenic variants detected by NGS are confirmed via Sanger sequencing to ensure 99.9% analytical sensitivity. This targeted approach enables precise diagnosis of Hereditary Spastic Paraplegia Type 2 (SPG2), a progressive neurological disorder, and informs family counselling and clinical management strategies.
| Feature | PLP1/SPG2 NGS Targeted Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision | 99.9% analytical sensitivity; complete coding exon coverage of PLP1 with Sanger confirmation | ~98% sensitivity; broader coverage but variable PLP1 read depth, higher incidental findings |
| Methodology | Illumina NGS plus bidirectional Sanger confirmation of all pathogenic variants | Short‑read WES with target enrichment; PLP1 coverage dependent on capture kit |
| Turnaround & Logistics | 3–4 weeks; mobile home phlebotomy available 8 AM–11 PM, FTA card option for remote areas | 4–8 weeks; typically requires hospital or clinic visit for blood draw |
Physician Insight & Safety Protocols
Consultant Medical Genetics Insight
Genetic testing for inherited neurological conditions such as SPG2 carries both diagnostic and psychosocial implications. Our NGS platform delivers robust analytical accuracy, but the clinical interpretation must always be integrated with a thorough neurological examination, pedigree analysis, and family history. Post‑test genetic counselling is essential to discuss inheritance patterns, carrier risk, and reproductive options. Patients and families should be aware that genetic results may take 3–4 weeks to complete due to the rigorous confirmation steps required for clinical validity.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or alter any prescribed medication without consulting your treating physician. Genetic test results may inform future treatment strategies only under the supervision of a qualified specialist.
Patient Exclusion & Safety Criteria
- Exclusion Criteria: Active febrile illness, current chemotherapy that may compromise DNA extraction, or inability to provide informed consent. For minors, mandatory parental or guardian consent and pre‑test genetic counselling are required as per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags (Seek Immediate Medical Attention): Sudden severe headache, acute visual disturbance, new‑onset seizures, rapid progression of gait impairment, or any acute neurological deficit. These symptoms are unrelated to the test but warrant urgent neurological evaluation.
- Home Collection Safety: All phlebotomists are DHA‑licensed; cold‑chain logistics maintain sample integrity from collection to laboratory receipt. FTA card option is available for remote or rural locations.
Patient FAQ & Clinical Guidance
1. What is the PLP1/SPG2 NGS test and how accurate is it?
The PLP1/SPG2 NGS test uses Illumina‑based next‑generation sequencing to detect pathogenic variants in the PLP1 gene, which causes Hereditary Spastic Paraplegia Type 2 (SPG2). The test achieves 99.9% analytical sensitivity by sequencing all coding exons and confirming every clinically significant variant with Sanger sequencing. This dual‑method approach minimises false positives and ensures your result is both highly precise and clinically actionable.
2. How should I prepare for the test and what is the turnaround time?
No fasting or medication changes are required. A peripheral blood sample (3–5 mL in EDTA) or an FTA card is collected during a scheduled home visit. A pre‑test genetic counselling session is mandatory to document family history and construct a three‑generation pedigree. Results are reported within 3–4 weeks from sample receipt at the laboratory.
3. Is home blood collection available and is this test covered by insurance in the UAE?
Yes, our VIP mobile phlebotomy service operates daily from 8 AM to 11 PM across all UAE emirates. Samples are transported under ISO‑compliant temperature‑controlled cold‑chain conditions. Direct billing with most UAE health insurers can be pre‑verified by sending your Emirates ID and insurance card via WhatsApp to +971 54 548 8731. Out‑of‑pocket price is 2,800 AED, inclusive of pre‑test counselling, sample collection, sequencing, and post‑test telephonic genetic consultation.
UAE Regulatory & Data Privacy Adherence
Your genetic data is handled in strict compliance 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. All sequencing data is encrypted, access‑controlled, and stored within secure UAE‑based servers. Clinical reporting follows the regulatory framework of the Dubai Healthcare City Authority and the Dubai Health Authority. No genetic information is shared with third parties without explicit written consent from the patient or legal guardian.
Clinical & Logistical Metadata
| Test Name | PLP1 Gene Sequencing for SPG2 via Next‑Generation Sequencing (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (21–28 calendar days) |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card; VIP mobile phlebotomy & temperature‑controlled cold‑chain home collection |
| Methodology Used | Illumina‑based next‑generation sequencing (NGS) with bidirectional Sanger confirmation of pathogenic variants |
| ICD‑10‑CM Code | G11.4 |
| LOINC Code | 81265-0 |
| 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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