Test Price
2,800 AED✅ Home Collection Available
PNPLA6 Gene SPG39 Next-Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Clinical Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS workflow with confirmatory Sanger sequencing.
Premium Logistics: Paid hospital‑grade home collection by DHA‑licensed phlebotomists, ISO certified cold‑chain transport, and VIP mobile phlebotomy service (8 AM – 11 PM).
Post‑Test Clinical Guidance: Complimentary telephonic interpretation session with a clinical geneticist to discuss results and next steps.
Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731; many UAE policies cover genetic testing for suspected hereditary neurological disorders.
Test Overview & Methodology
The PNPLA6 Gene SPG39 Genetic Test identifies pathogenic variants in the entire coding region of the PNPLA6 gene, providing a definitive molecular diagnosis for hereditary spastic paraplegia type 39 and related neurodegenerative conditions such as Boucher‑Neuhäuser and Gordon Holmes syndromes.
| Feature | Our Test – NGS (PNPLA6) | Traditional Sanger Sequencing |
|---|---|---|
| Variant Detection | >99.9% sensitivity for coding and splice-site variants | ~95% for targeted regions; misses deep intronic/large rearrangements |
| Method | Next‑Generation Sequencing + confirmatory Sanger | Sanger sequencing of individual exons |
| Turnaround Time | 3–4 weeks | 4–6 weeks for full gene |
Physician Insight & Safety Protocols
“Living with progressive neurological symptoms is challenging, and a clear genetic diagnosis can bring relief and direction. This test must always be interpreted in the context of your full clinical picture, family history, and neurological examination. A negative result does not exclude other neurodegenerative disorders, and do not discontinue any prescribed medication without consulting your treating physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory
This genetic test provides diagnostic information and should not be used as a substitute for ongoing neurological care. Always discuss results with a qualified genetic counselor or neurologist before making any treatment changes.
Exclusion & Safety Criteria
- Exclusion: Patients with active coagulopathy or severe thrombocytopenia require special collection arrangements.
- ER Red Flags: If you develop sudden vision loss, rapid gait deterioration, or unexplained falls after sample collection, seek emergency evaluation immediately.
- Minors: In compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability, a legal guardian’s consent and genetic counselling are mandatory before testing individuals under 18.
- Data Privacy: All genetic information is protected under UAE Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL); results are shared solely with authorized clinicians.
Patient FAQ & Clinical Guidance
1. What does the PNPLA6 NGS test detect?
The PNPLA6 gene NGS test detects pathogenic mutations causing hereditary spastic paraplegia type 39 and related syndromes. This advanced genomic analysis scans all exons and splice junctions of the PNPLA6 gene. A positive result confirms a diagnosis of SPG39 or other PNPLA6‑related neurodegeneration, enabling targeted symptom management, reproductive counselling, and cascade family screening.
2. How is the sample collected and what preparation is needed?
A simple blood draw or buccal swab is taken at your home by our DHA‑licensed mobile phlebotomy team, available between 8 AM and 11 PM. No fasting is required. However, a pre‑test genetic counselling session (included) helps build an accurate pedigree and ensures informed consent.
3. Is this genetic test covered by insurance in the UAE?
Many UAE health plans cover genetic testing for neurological symptoms when ordered by a consultant neurologist or geneticist. Our team performs real‑time insurance verification through the dedicated line +971 54 548 8731, and we assist with pre‑approval documentation to maximize your benefits.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed in 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. Patient consent protocols follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. All results are encrypted and shared only with the requesting physician and the patient.
DNA Labs UAE is licensed by the Dubai Health Authority (DHA) and adheres to ISO 9001:2015 quality standards.
Clinical & Logistical Metadata
| Test Name | PNPLA6 Gene SPG39 Next-Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral Blood (3-5 mL in EDTA tube) or Buccal Swab (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) with confirmatory Sanger sequencing |
| ICD-10-CM Code | G11.4 (Hereditary spastic paraplegia) |
| LOINC Code | 81444-0 (PNPLA6 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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