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Test Price

2,800 AED

✅ Home Collection Available

CYP2U1 Gene SPG56 Next‑Generation Sequencing (NGS) Genetic Test

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139).
  • Premium Logistics: Hospital‑grade home collection with ISO‑certified cold‑chain transport and VIP mobile phlebotomy (available daily 8 AM–11 PM).
  • Clinical Guidance: Complimentary post‑test tele‑interpretation by a DHA‑licensed specialist.
  • Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The CYP2U1 Gene SPG56 Genetic Test utilises next‑generation sequencing (NGS) to fully analyse the CYP2U1 gene, detecting pathogenic variants linked to autosomal recessive hereditary spastic paraplegia type 56 (SPG56). This advanced molecular test is ordered by neurologists, clinical geneticists, and paediatric neurologists to confirm a clinical diagnosis, guide management, and inform family planning.

Feature Our Test (NGS Full‑Gene) Closest Alternative (Sanger Sequencing)
Precision >99.9% analytical sensitivity; detects SNVs, indels, and copy number variants across all coding exons ±10 bp Limited to known hotspots; may miss deep intronic or large rearrangements
Methodology 2026‑Compliant NGS with ACMG variant interpretation Capillary electrophoresis; older technology
Speed 3–4 weeks with full clinical report 6–8 weeks; often requires reflex testing

Physician Insight & Safety Protocols

“This test is a powerful diagnostic tool for hereditary spastic paraplegia, but it must be interpreted within the full context of your clinical history and neurological examination. A positive result can confirm the diagnosis and guide management, while a negative result does not exclude other genetic or acquired conditions. Always discuss your results with your treating physician.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory on Genetic Testing

Before proceeding with the test, ensure you have received pre‑test genetic counselling. The test result may have implications for family members and should not be used as a standalone diagnostic without clinical correlation.

Safety Exclusion & Emergency Red Flags

Do not discontinue any prescribed medication without consulting your doctor.

  • Exclusion Criteria: Acute febrile illness, recent blood transfusion (within 2 weeks), inability to provide a venous sample under sterile conditions.
  • Emergency Red Flags: If you develop sudden severe weakness, loss of bladder control, seizures, or breathing difficulty, seek emergency medical care immediately. This test is not a substitute for acute neurological assessment.

Patient FAQ & Clinical Guidance

1. What is SPG56 and how does this CYP2U1 gene test help?

This test analyses the full CYP2U1 gene by next‑generation sequencing to detect mutations that cause hereditary spastic paraplegia type 56, providing a definitive genetic diagnosis and guiding family risk assessment.

2. How is the sample collected and what are the requirements?

A blood sample (3–5 mL whole blood in EDTA), extracted DNA, or a few drops of blood on an FTA card can be used. Home collection is available through our ISO‑certified VIP mobile phlebotomy service across all emirates, daily from 8 AM to 11 PM.

3. What is the turnaround time and cost for the CYP2U1 NGS test?

The standard reporting time is 3 to 4 weeks, and the all‑inclusive price is 2800 AED, covering pre‑test genetic counselling, laboratory processing, and post‑test clinical interpretation.

UAE Regulatory & Data Privacy Adherence

Trust & Compliance Framework

This test is performed under DHA Facility License No. 1143. All patient data is handled in 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. Clinical safety and consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name CYP2U1 Gene SPG56 Next‑Generation Sequencing (NGS) Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 weeks
Sample Type / Matrix Whole blood (EDTA), extracted DNA, or FTA card
Methodology Used Next‑Generation Sequencing (NGS) – Full gene analysis
ICD-10-CM Code G11.4
LOINC Code 101342-4
DHA Facility License & Laboratory Address DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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