Test Price
2,800 AED✅ Home Collection Available
TWNK (C10orf2) Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test in UAE
Executive Summary & Core Metrics
- 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS platform
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM)
- Telephonic post-test clinical guidance from DHA-licensed genetics consultant
- Direct insurance billing verification via WhatsApp +971 54 548 8731
- Price: 2,800 AED | Turnaround: 3–4 weeks
Test Overview & Methodology
This advanced genomic test sequences the entire TWNK gene using next-generation sequencing with copy number variant analysis to diagnose autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions type 3 (PEOA3). The assay ensures comprehensive detection of pathogenic mutations with over 95% diagnostic yield for TWNK variants.
| Feature | Our TWNK NGS Test | Whole Exome Sequencing (Alternative) |
|---|---|---|
| Methodology | Targeted NGS + CNV detection | Broad exome analysis, may miss CNVs |
| Diagnostic Yield | >95% for TWNK mutations | ~70% for monogenic PEO |
| Turnaround Time | 3–4 weeks | 6–10 weeks |
| Clinical Report | Focused interpretation by medical geneticist & neurologist | Broad findings, may require secondary analysis |
| Cost | 2,800 AED | 5,000–7,000 AED |
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I emphasize that this test provides a definitive molecular diagnosis for families affected by mitochondrial eye muscle disorders. A positive result clarifies the genetic origin but does not predict the full clinical spectrum; ongoing multidisciplinary care remains essential." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Medication Safety
Important Medication Warning
Do not stop any prescribed medication without consulting your treating physician. This genetic test may inform your neurologist's management plan but should never replace clinical judgment or alter ongoing therapy without professional guidance.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Acute bleeding diathesis or current anticoagulant therapy – requires physician clearance prior to phlebotomy.
- Exclusion: Minors under 18 must have parental consent per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Pregnant individuals may require special handling; consult your obstetrician before sample collection.
- Emergency: If after sample collection you develop sudden vision loss, severe muscle weakness affecting breathing, or chest pain, go to the nearest ER immediately.
Patient FAQ & Clinical Guidance
1. Who should consider this TWNK gene test?
This NGS test is indicated for individuals with clinical features of progressive external ophthalmoplegia, ptosis, or mitochondrial myopathy, especially when there is a family history suggesting autosomal dominant inheritance. Pre-test genetic counseling is recommended to discuss implications for the patient and family members.
2. How accurate is the test and what does a positive result mean?
The assay achieves >95% sensitivity for pathogenic TWNK variants with analytical accuracy exceeding 99%. A positive result confirms the genetic diagnosis of PEOA3 but does not predict disease severity or progression; ongoing clinical follow-up with a neurologist and genetic counselor is essential.
3. How is the sample collected and is home collection available?
Sample types accepted: whole blood (3–5 ml EDTA tube), extracted DNA, or one drop of blood on an FTA card. DHA-licensed nurses perform VIP mobile phlebotomy at your home with temperature-controlled cold-chain transport, available daily from 8 AM to 11 PM. Results are ready in 3–4 weeks, followed by a telephonic interpretation session.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This genetic testing service operates in full 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. Patient consent and minor authorization adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is DHA-licensed under facility number 1143 and ISO 9001:2015 certified. All genetic data is stored and processed within UAE-secured servers.
Contact & Billing: WhatsApp +971 54 548 8731 for direct insurance billing verification and appointment scheduling (8 AM – 11 PM daily).
Clinical & Logistical Metadata
| Test Name | TWNK (C10orf2) Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test (NGS + CNV) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card – peripheral blood sample |
| Methodology Used | Targeted next-generation sequencing (NGS) with copy number variant (CNV) analysis |
| ICD-10-CM Code | H49.81 (Progressive external ophthalmoplegia) |
| LOINC Code | 81247-9 (TWNK gene sequencing) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians