Test Price
2,800 AED✅ Home Collection Available
C12ORF65 Gene SPG55 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين C12ORF65 SPG55 بتقنية التسلسل الجيني من الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary |ملخص تنفيذي
- ✓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.
Overview
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.
يُحلل اختبار جين C12ORF65 بتقنية التسلسل من الجيل التالي المنطقة المشفِّرة الكاملة للجين لكشف الطفرات المسبِّبة للشلل النصفي التشنجي الوراثي من النوع 55 (SPG55)، مما يوفِّر تشخيصًا جزيئيًا دقيقًا ومعتمدًا من هيئة الصحة بدبي.
| 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 Protocol
“We understand that genetic testing for hereditary neurological conditions can be deeply personal. This C12ORF65 SPG55 NGS analysis offers precise molecular insights, but it must always be correlated with your full clinical picture and family history. I strongly encourage you to review the results with your neurologist or a certified genetic counsellor to ensure proper integration into your care plan.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
Medication Warning:
Do not discontinue any prescribed medication or make treatment decisions based solely on this test. Always consult your treating physician first.
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 UAE CDS Law 2026 – Minors). 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.
Clinical Intent & Specialist Guidance
Our C12ORF65 SPG55 NGS Test is clinically indicated for three primary specialist domains:
Neurologist
Confirms SPG55 in patients with progressive lower‑limb spasticity and positive family history; differentiates from other hereditary spastic paraplegias.
Clinical Geneticist
Enables precise genetic counselling, carrier testing, and reproductive risk assessment based on autosomal recessive inheritance.
Medical Researcher
Provides high‑quality variant data for genotype‑phenotype correlation studies and future therapeutic trials under an ISO‑accredited biobank protocol.
Patient FAQ & Clinical Guidance
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.
تسبب طفرات جين C12ORF65 الشلل النصفي التشنجي الوراثي من النوع 55 (SPG55)، وهو اضطراب عصبي تقدمي يتميز بتصلب وضعف الساقين. يقرأ اختبارنا كامل الجين بتقنية التسلسل عالي الإنتاجية للكشف عن الطفرات النادرة وتأكيد التشخيص.
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.
يُنصح بهذا الاختبار للأفراد الذين يعانون من تصلب تدريجي غير مبرر في الساقين، أو لديهم تاريخ عائلي للشلل النصفي التشنجي الوراثي، أو لمن يخططون لتكوين أسرة، بعد جلسة استشارة وراثية إلزامية.
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.
يحقق اختبارنا دقة تحليلية تزيد عن 99.9% للتغيرات النيوكليوتيدية الفردية والإدراج/الحذف الصغير في جين C12ORF65، مع تأكيد جميع النتائج الإكلينيكية بتقنية سانجر، وكل ذلك وفق معيار ISO 9001:2015.
UAE Regulatory Compliance
This clinical service strictly adheres to Federal Decree‑Law No. 41 of 2024 (Art. 87) on health data integrity, UAE PDPL for genomic data privacy, and the CDS Law 2026 provisions for minors. All laboratory processing is performed within a UAE‑licensed facility (License: 9834453) and monitored under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Pre‑ information: A genetic counselling session to draw a pedigree chart of family members affected by C12ORF65‑related conditions is required. Samples accepted: Whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card. Turnaround time: 3–4 weeks.
ICD‑10 Codes: G11.4 (Hereditary spastic paraplegia), Z84.0 (Family history of neurological disease), Z13.85 (Encounter for screening for nervous system disorders). LOINC: 81657-5 – C12ORF65 gene variant analysis.
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