Test Price
2,800 AED✅ Home Collection Available
AP5Z1 Gene SPG48 Genetic Test in UAE | 2,800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
Next‑generation sequencing (NGS) of the AP5Z1 gene for diagnosing hereditary spastic paraplegia type 48 (SPG48) with 99.9% diagnostic sensitivity. Performed at a DHA‑licensed, ISO 9001:2015‑certified laboratory in Dubai Healthcare City. Premium VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM. Post‑test telephonic genetic counselling included.
Diagnostic Accuracy: 99.9% analytical sensitivity and specificity via NGS full‑gene sequencing.
Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM – 11 PM).
Clinical Support: Telephonic post‑test guidance by a board‑certified genetic counsellor.
Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The AP5Z1 Gene SPG48 Genetic Test provides a definitive molecular diagnosis for progressive lower‑limb spasticity and enables targeted family screening and reproductive planning. The assay uses high‑depth, uniform‑coverage NGS to sequence all exons, exon‑intron boundaries, and known deep intronic pathogenic regions of the AP5Z1 gene. Variant detection includes single‑nucleotide variants, small insertions/deletions, and copy‑number variants.
| Feature | DNA Labs UAE – AP5Z1 NGS | Closest Alternative |
|---|---|---|
| Methodology | NGS – Full Gene Sequencing (high depth, uniform coverage) | Single‑gene Sanger sequencing (targeted, limited variant detection) |
| Diagnostic Precision | >99.9% analytical sensitivity & specificity | ~95% for common mutations, misses deep intronic/copy‑number variants |
| Turnaround Time | 3 to 4 Weeks (with optional STAT upgrade) | 4 to 6 Weeks (rigid schedules) |
| Post‑Test Support | Telephonic genetic counselling included | Often not provided or at additional cost |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasise that a positive AP5Z1 variant must always be interpreted alongside a complete neurological examination and detailed family history. A negative result reduces the likelihood of SPG48 but does not exclude other hereditary spastic paraplegia subtypes. The diagnostic journey is a partnership between the patient, the treating neurologist, and the genetics team.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Important Medication Advisory
Do not discontinue or adjust any prescribed antispastic therapy (e.g., baclofen, tizanidine) without consulting your treating physician. Abrupt cessation may cause severe rebound spasticity, pain, or withdrawal symptoms. This genetic test is an elective diagnostic tool and does not replace urgent neurological evaluation.
Exclusion Criteria & Emergency Red Flags
- Acute systemic infection or febrile illness within the last 72 hours.
- History of allogeneic bone marrow or stem cell transplantation in the preceding 6 weeks.
- Inability to provide informed consent, or for minors, absence of parental consent in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: Sudden loss of ambulation, acute severe back or pelvic pain, new‑onset urinary retention, or respiratory muscle weakness — seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What exactly does the AP5Z1 SPG48 genetic test detect?
Summary: This test sequences the entire AP5Z1 gene using NGS to detect mutations that cause SPG48 hereditary spastic paraplegia.
The analysis covers all exons, exon‑intron boundaries, and known deep intronic pathogenic regions. It identifies single‑nucleotide variants, small insertions/deletions, and copy‑number variants that disrupt the AP5Z1 protein, confirming a diagnosis of SPG48 in symptomatic individuals and clarifying carrier status in at‑risk family members.
2. How is the sample collected and what should I expect?
Summary: A skilled phlebotomist performs a venous blood draw at your home via VIP Mobile Phlebotomy, or you may choose an FTA card finger‑prick sample.
We offer ISO‑certified cold‑chain home collection. A trained professional arrives at your scheduled appointment and collects a small blood sample in under 10 minutes. No fasting or special preparation is required. The sample is transported in a temperature‑controlled container to our Dubai‑based NGS laboratory. Service is available daily from 8 AM to 11 PM.
3. How long do results take and what support is provided?
Summary: Results are available within 3 to 4 weeks, followed by a telephonic genetic counselling session to interpret findings.
Once sequencing and bioinformatic analysis are complete, a board‑certified genetic counsellor contacts you via a secure teleconsultation. You receive a detailed, DHA‑compliant report in English, including variant classification, clinical correlation, and family risk assessments. All data is protected under UAE PDPL (Federal Decree‑Law No. 45 of 2021).
4. Who should consider this genetic test?
Summary: Individuals with progressive lower‑limb spasticity, a family history of hereditary spastic paraplegia, or those seeking carrier screening for SPG48.
The test is appropriate for symptomatic patients with a clinical suspicion of SPG48, asymptomatic first‑degree relatives of a confirmed carrier, and couples planning a family who want to understand their genetic risk. A pre‑test consultation with a neurologist or genetic counsellor is recommended.
UAE Regulatory & Data Privacy Adherence
All genetic testing and data handling at DNA Labs UAE strictly comply with:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and storage of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating digital health records and telemedicine.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability — ensuring informed consent and clinical safety standards.
- Dubai Healthcare City (DHCC) Regulations and Dubai Health Authority (DHA) Standards for laboratory licensing and genetic testing.
Your genetic data is encrypted, access‑restricted, and never shared with third parties without your explicit written consent. You have the right to access, correct, and request deletion of your data in accordance with PDPL.
Clinical & Logistical Metadata
| Test Name | AP5Z1 Gene SPG48 Genetic Test (NGS Full‑Gene Sequencing) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks (STAT upgrade available) |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL EDTA) or FTA Card Finger‑Prick |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Sequencing with uniform high‑depth coverage |
| ICD-10-CM Code | G11.4 (Hereditary spastic paraplegia), Z13.7 (Encounter for genetic carrier screening) |
| LOINC Code | 82675-3 (Genetic analysis report) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians