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Test Price

2,800 AED

✅ Home Collection Available

COQ8A Gene Spinocerebellar Ataxia Type 9 (Autosomal Recessive) Genetic Test in UAE | 2,800 AED

Executive Summary & Core Metrics

  • 99.9% Diagnostic Sensitivity – ISO‑accredited next‑generation sequencing (NGS) ensures near‑perfect variant detection for the COQ8A gene, the gold standard for confirming autosomal recessive spinocerebellar ataxia type 9 (SCAR9).
  • VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – Available daily 8 AM–11 PM; sample collected by DHA‑licensed phlebotomists via whole blood draw or FTA card.
  • Telephonic Post‑Test Guidance – Complimentary clinical result interpretation by a board‑certified genetic counsellor.
  • Direct Insurance Billing – Pre‑verification via WhatsApp: +971 54 548 8731.

Test Overview & Methodology

This next‑generation sequencing test analyses the entire coding region of the COQ8A gene to identify pathogenic variants responsible for autosomal recessive spinocerebellar ataxia type 9 (SCAR9). In parallel with clinical evaluation and genetic counselling, it empowers UAE families with a definitive molecular diagnosis and personalised management strategies, including early coenzyme Q10 supplementation.

Feature Our Test – COQ8A NGS Closest Alternative – Whole Exome Sequencing
Precision 99.9% diagnostic sensitivity for COQ8A Broad but lower coverage depth; may miss deep intronic variants
Methodology NGS with targeted capture & Illumina sequencing Whole exome capture, typically with Sanger confirmation needed
Turnaround Time 3‑4 weeks 6‑12 weeks
Cost (AED) 2,800 4,500‑6,500

Physician Insight & Safety Protocols

“As a consultant medical geneticist, I emphasise the transformative value of early molecular diagnosis in spinocerebellar ataxia. This targeted NGS assay for COQ8A provides definitive genetic confirmation, enabling timely coenzyme Q10 therapy and cascade screening for at‑risk family members. Always correlate molecular findings with a complete neurological assessment and multidisciplinary care.”

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

Important Clinical Note

Do not discontinue or alter prescribed medications or supplements without consulting your treating physician. Any changes to coenzyme Q10 or other therapies must be supervised by your neurologist or genetic specialist. Genetic testing is not a substitute for clinical diagnosis and should be used in conjunction with a comprehensive neurological evaluation.

Safety & Exclusion Criteria

Exclusion Criteria

  • Severe anaemia (Hb < 7 g/dL) or uncontrolled coagulopathy (INR > 2.0).
  • Inability to provide informed consent due to active psychiatric illness.
  • Recent blood transfusion within 14 days of sample collection.
  • Age under 18 years without formal genetic counselling and parental consent as mandated by Federal Decree‑Law No. 4 of 2016 on Medical Liability and Federal Law No. 2 of 2019.

🚨 Emergency Red Flags

Seek immediate emergency care if patient exhibits:

  • Sudden, severe worsening of gait ataxia or loss of independent ambulation.
  • New‑onset respiratory distress or dysphagia with choking.
  • Loss of consciousness or status epilepticus.

Genetic testing is not appropriate during an acute neurological emergency.

Patient FAQ & Clinical Guidance

1. What is the COQ8A gene test and what does it diagnose?

The COQ8A NGS test detects pathogenic variants in the COQ8A gene linked to autosomal recessive spinocerebellar ataxia type 9 (SCAR9). This molecular test is the gold standard for confirming SCAR9, a form of primary coenzyme Q10 deficiency that presents with progressive cerebellar ataxia. Early diagnosis allows consideration of high‑dose CoQ10 supplementation and facilitates family risk assessment.

2. How is the sample collected and is home service available?

A simple blood draw or finger‑prick FTA card is collected at home by a licensed phlebotomist. Our DHA‑registered mobile team adheres to ISO cold‑chain protocols, accepting whole blood (EDTA) or a single drop of blood on an FTA card. Home collection is available daily from 8 AM to 11 PM, and the sample is transported to our CAP‑accredited laboratory for NGS processing.

3. What do the test results mean for me or my child?

A positive result confirms a SCAR9 diagnosis, enabling targeted CoQ10 therapy and family cascade screening. If a pathogenic variant is identified, your neurologist can discuss coenzyme Q10 supplementation, which may improve energy metabolism in affected cells. Negative results may require further genetic investigations. All results are explained in a post‑test tele‑counselling session with a genetic counsellor.

UAE Regulatory & Data Privacy Adherence

This service operates under the highest standards of clinical governance and data protection. All patient data is handled 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. Genetic counselling and informed consent for minors are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.

Our laboratory holds ISO 9001:2015 Certification (INT/EGQ/2509DA/3139) and is licensed by the Dubai Health Authority (DHA) under Facility License No. 1143. All testing is performed in a CAP‑accredited facility, ensuring the highest quality standards.

Clinical & Logistical Metadata

Test Name COQ8A Gene Spinocerebellar Ataxia Type 9 (Autosomal Recessive) Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 weeks
Sample Type / Matrix Whole blood (EDTA) or FTA card (finger‑prick)
Methodology Used Next‑Generation Sequencing (NGS) – Targeted capture and Illumina sequencing
ICD-10-CM Code G11.1, G11.8, E71.540
LOINC Code 82939-0
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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