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Test Price

3,200 AED

✅ Home Collection Available

Ophthalmoplegia Genetic Panel (NGS) in UAE | 3200 AED | DHA Licensed

Executive Summary & Core Metrics

✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Next‑Generation Sequencing with Sanger Confirmation.

✅ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).

✅ Clinical Guidance: Complimentary Telephonic Post‑Test Clinical Interpretation by a DHA‑licensed Consultant Medical Geneticist.

✅ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The Ophthalmoplegia Genetic Panel uses Next‑Generation Sequencing (NGS) with orthogonal Sanger confirmation to detect pathogenic variants in genes associated with progressive external ophthalmoplegia, mitochondrial myopathies, and congenital eye‑muscle paralysis. This ultra‑precise test helps ophthalmologists, neurologists, and genetic counsellors tailor treatment and offer informed familial risk assessment in the UAE.

Feature Ophthalmoplegia Panel (NGS + Sanger) Closest Alternative (Single‑Gene / MLPA)
Methodology Whole Exome NGS with orthogonal Sanger sequencing; GRCh38 alignment Targeted PCR / MLPA for one or few genes
Diagnostic Sensitivity 99.9% (captures indels, CNVs and mtDNA variants) ~65–80% depending on gene panel
Turnaround Time 45 working days 30–60 working days
Regulatory Standards ISO 9001:2015; complies with UAE PDPL & Health Data Protection Laws Varies; often lacks ISO‑accredited processing

Physician Insight & Safety Protocols

“A genetic result must be interpreted within the full clinical context. A negative finding does not exclude mitochondrial dysfunction, and positive variants require segregation analysis and expert familial correlation. Always involve a genetic counsellor before disclosing results to patients.”

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

Advisory & Clinical Precautions

⚠️ Important Precautions

Do not discontinue any prescribed medications (e.g., immunosuppressants, thyroxine, antiepileptics) without consulting your treating physician. Fasting is not required before collection. Inform your phlebotomist of any anticoagulant therapy.

Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: Inability to provide informed consent; acute haemolytic crisis or severe anaemia requiring immediate transfusion (post‑transfusion sampling allowed after 4 weeks).
  • Not for emergency diagnosis: This is a non‑urgent genetic analysis with a 45‑day turnaround time.
  • Seek Emergency Care Immediately if: Sudden loss of vision, ophthalmoplegia progressing to dysphagia or dyspnoea, or signs of brainstem involvement (e.g., diplopia with ptosis and limb weakness).
  • Sample Handling: DO NOT FREEZE. Refrigerate at 2–8 °C. Transport within 72 hours of collection.
  • Mandatory Documentation: Duly filled Whole Exome Sequencing Consent Form (Form 37) must accompany the sample.

Patient FAQ & Clinical Guidance

1. What does the Ophthalmoplegia Genetic Panel detect?

The panel sequences the entire exome and confirms pathogenic variants with Sanger sequencing, identifying mutations responsible for progressive external ophthalmoplegia, Kearns‑Sayre syndrome, and congenital eye‑muscle paralysis with 99.9% diagnostic sensitivity.

2. How is the blood sample collected and what preparation is needed?

Our ISO‑certified phlebotomist visits your home (8 AM–11 PM) to collect 10 mL of blood in two lavender‑top EDTA tubes. No fasting required. The sample is shipped refrigerated immediately using cold‑chain logistics.

3. How long until results and are they confidential under UAE law?

The report is issued within 45 working days. Every genetic record is safeguarded under 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, ensuring full privacy and compliance.

UAE Regulatory & Data Privacy Adherence

This diagnostic service complies with UAE healthcare regulations including 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. All genetic data is processed under strict confidentiality protocols. The laboratory operates under DHA Facility License No. 1143 and ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name Ophthalmoplegia Genetic Panel (NGS + Sanger Confirmation)
Price (AED) 3,200
Turnaround Time 45 working days
Sample Type / Matrix Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection Available
Methodology Used Next‑Generation Sequencing (Whole Exome) with Orthogonal Sanger Confirmation; GRCh38 Alignment
ICD-10-CM Code H49.81 (Progressive external ophthalmoplegia)
LOINC Code 94473-3 (Ophthalmoplegia gene panel)
DHA Facility License & Address DNA Labs UAE — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License: 1143

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