Test Price
2,800 AED✅ Home Collection Available
C12ORF65 Gene SPG55 Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary
- ✓Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139).
- ✓Premium Logistics: ISO-certified cold-chain home collection (8 AM – 11 PM) & VIP mobile phlebotomy – no clinic visit required.
- ✓Clinical Guidance: Telephonic post-test clinical guidance with result interpretation included.
- ✓Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The C12ORF65 Gene SPG55 NGS Test analyzes the entire coding region of the C12ORF65 gene using next‑generation sequencing (NGS) to detect pathogenic variants responsible for hereditary spastic paraplegia type 55 (SPG55). This advanced genetic screening delivers precise, DHA‑compliant results, giving UAE patients and their neurologists definitive molecular confirmation of this autosomal recessive disorder.
Testing is indicated for individuals with progressive lower‑limb spasticity, positive family history of hereditary spastic paraplegia, or those requiring carrier screening. A mandatory pre‑test genetic counselling session documents the family pedigree and confirms clinical appropriateness before proceeding.
| Feature | Our C12ORF65 SPG55 NGS Test | Closest Alternative (Single‑Exon Sequencing) |
|---|---|---|
| Precision | 99.9% coverage of all coding exons & splice junctions | Limited to selected exons; may miss deep intronic variants |
| Method | Next‑generation sequencing (NGS) – Illumina platform | Sanger sequencing of individual amplicons |
| Turnaround | 3–4 weeks | 6–8 weeks |
Physician Insight & Safety Protocols
“Genetic testing for hereditary neurological conditions carries significant implications for the patient and their family. This C12ORF65 SPG55 NGS analysis provides precise molecular evidence, yet the results must be interpreted within the full context of clinical presentation, pedigree structure, and neurological examination. I strongly advise a post‑test consultation with a board‑certified genetic counsellor to integrate these findings into a comprehensive care strategy.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Pre‑Test Advisory
Important Clinical Guidance
Do not discontinue any prescribed medication or make treatment decisions based solely on this test result. Always consult your treating neurologist or primary care physician before initiating, stopping, or modifying any therapy. This genetic test is a planned diagnostic tool and cannot address acute neurological symptoms.
Exclusion Criteria & Red Flags
Pre‑Test Safety & Red Flags
- Exclusion Criteria: This test is not indicated for acute neurological emergencies or for individuals under 18 years of age without a legal guardian’s consent (as per Federal Decree-Law No. 4 of 2016 on Medical Liability). It is not a stand‑alone diagnostic for recent‑onset spasticity of unknown cause; a neurology consultation must precede testing.
- Emergency Red Flags: If you experience sudden weakness in the limbs, loss of vision, difficulty breathing, or loss of consciousness, seek immediate emergency medical attention. This genetic test is a planned diagnostic tool and cannot address acute symptoms.
Patient FAQ & Clinical Guidance
1. What is the C12ORF65 gene and how does it relate to hereditary spastic paraplegia?
C12ORF65 gene mutations cause autosomal recessive hereditary spastic paraplegia type 55 (SPG55), a progressive neurological disorder characterized by leg stiffness and weakness. This condition typically begins in childhood or early adulthood and may worsen over time. Our NGS test reads the entire gene to detect even rare variants, providing a definitive molecular diagnosis when clinical symptoms align.
2. Who should consider having the C12ORF65 SPG55 NGS test?
Individuals with unexplained progressive leg stiffness, a family history of hereditary spastic paraplegia, or those planning a family should consider this test. It is especially valuable for parents who are carriers of autosomal recessive traits and for athletes or sports scientists evaluating unexplained neurological performance decline, as authorized by a DHA‑licensed neurologist. A pre‑test genetic counselling session is mandatory to document the family pedigree.
3. How accurate is the next‑generation sequencing method for C12ORF65 analysis?
Our NGS pipeline achieves >99.9% analytical sensitivity and specificity for single nucleotide variants and small indels in the C12ORF65 coding region. The test includes Sanger confirmation of all clinically relevant findings and is performed under ISO 9001:2015 certified procedures, with every batch validated against reference standards. Deep intronic and copy‑number variations beyond the targeted design are excluded, but these are rare in SPG55.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This clinical service strictly adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for genomic data privacy, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for health data integrity, and Federal Decree-Law No. 4 of 2016 on Medical Liability for patient safety and consent protocols.
All laboratory processing is performed within a UAE‑licensed facility under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). Patient data is encrypted, access‑controlled, and retained only as required by applicable law. A pre‑test genetic counselling session to document the family pedigree is mandatory before sample collection.
Clinical & Logistical Metadata
| Test Name | C12ORF65 Gene SPG55 NGS Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next‑generation sequencing (NGS) – Illumina platform with Sanger confirmation |
| ICD-10-CM Code | G11.4, Z84.0, Z13.85 |
| LOINC Code | 81657-5 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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