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Test Price

2,800 AED

✅ Home Collection Available

KCTD7 Gene Genetic Test for Progressive Myoclonus Epilepsy Type 3 (EPM3) in UAE | 2800 AED | 2026 DHA Guidelines

تحليل تسلسل الجيل التالي لجين KCTD7 الخاص بالصرع الرمعي العضلي التقدمي من النوع الثالث في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي

Executive Summary الملخص التنفيذي
  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing (Cert: INT/EGQ/2509DA/3139).
  • Premium Logistics: Hospital‑Grade Home Collection (8 AM–11 PM) with ISO‑Certified Cold‑Chain Transport and VIP Mobile Phlebotomy.
  • Clinical Guidance: Complimentary Telephonic Post‑Test Clinical Correlation with a DHA‑Licensed Neurologist.
  • Insurance: Direct Billing Verification via WhatsApp — send your policy details to +971 54 548 8731.

فحص جيني ذو حساسية تشخيصية 99.9% عبر مختبر معتمد ISO 9001:2015. نقدم خدمة سحب منزلي متميزة مع سلسلة تبريد مضمونة، وإرشاد سريري بعد الاختبار، والتحقق المباشر من التغطية التأمينية عبر واتساب.

Test Overview & Comparison

The KCTD7 Gene Genetic Test identifies pathogenic variants in the KCTD7 gene (OMIM 611725) responsible for Progressive Myoclonus Epilepsy Type 3 (EPM3), a rare autosomal recessive neurodegenerative disorder characterized by progressive myoclonus, tonic-clonic seizures, and cognitive decline. This test guides confirmatory diagnosis, prognostication, and family reproductive planning.

Feature Our KCTD7 NGS Test (DHA‑Licensed) Closest Alternative (Single‑Gene Sanger)
MethodologyNext Generation Sequencing (NGS) – full gene coverage ± 20 bp intronic flankingSanger sequencing – limited to selected exons only
Variant Detection Rate>99.9% for SNVs/indels; copy number variation (CNV) analysis included~95% for targeted regions; CNV not routinely performed
Turnaround Time3–4 Weeks4–6 Weeks
Regulatory Alignment2026 UAE CDS Law, Federal Decree‑Law No. 41/2024 (Art. 87), UAE PDPLMay not comply with UAE genetic data privacy mandates

Physician Insight & Safety Protocol

Empathetic Note from Dr. Prabhakar Reddy (DHA License: 61713011)
“Living with progressive myoclonus epilepsy is deeply challenging for patients and families. This genetic test offers clarity, but findings must always be correlated with your clinical picture and family history. I strongly recommend a dedicated genetic counselling session before and after testing so you fully understand the implications and next steps.”

⚠ Important: Do not discontinue prescribed anti‑epileptic medication without consulting your doctor.

Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: Testing is not indicated for asymptomatic individuals without a family history of progressive myoclonus epilepsy, or solely for carrier screening in unrelated partners, unless recommended by a clinical geneticist.
  • Pediatric Consent: In compliance with UAE CDS Law 2026, minors must have legal guardian consent and assent documented prior to sample collection.
  • Emergency Red Flags: Seek immediate medical attention if you experience status epilepticus (a seizure lasting >5 minutes), sudden loss of ambulation due to severe myoclonus, or any new difficulty swallowing or breathing.

Pre‑Test Patient Requirements

  • Detailed clinical history documenting seizure semiology, myoclonus progression, and neurological regression.
  • Mandatory Genetic Counselling Session to construct a three‑generation pedigree chart of family members possibly affected by EPM3.
  • No fasting is required. However, please inform the phlebotomist of all current medications and supplements.
  • Sample types accepted: Whole Blood (EDTA tube), Extracted DNA (≥1µg, A260/280 1.8‑2.0), or One drop of blood on FTA Card — all processed identically via NGS.

Frequently Asked Questions

1. What is the KCTD7 gene test for progressive myoclonus epilepsy type 3?
ما هو فحص جين KCTD7 للصرع الرمعي العضلي التقدمي من النوع الثالث؟

This test uses Next Generation Sequencing to detect pathogenic mutations in the KCTD7 gene that cause progressive myoclonus epilepsy type 3 (EPM3). It is a definitive genetic diagnostic tool that distinguishes EPM3 from other progressive myoclonic epilepsies, aids in accurate prognosis, and informs reproductive risk for family members.

2. How is the test performed and what sample is required?
كيف يتم إجراء الفحص وما العينة المطلوبة؟

A blood sample or pre‑extracted DNA is collected via our ISO‑certified home phlebotomy service between 8 AM and 11 PM. The sample is transported in a temperature‑controlled cold chain, and DNA is sequenced using NGS to analyze the entire KCTD7 gene, including copy number variations. Results are returned in 3–4 weeks with a clinically validated report.

3. What do the results mean?
ماذا تعني نتائج الفحص؟

A positive report identifies a known or likely pathogenic variant in KCTD7, confirming the diagnosis of progressive myoclonus epilepsy type 3. Negative results may rule out EPM3 but require specialist interpretation if clinical suspicion remains high. A variant of uncertain significance (VUS) will be explained by our genetic counsellor, and family studies may be recommended to clarify its clinical relevance.

Contact & Same‑Day Booking: +971 54 548 8731 | WhatsApp verification for insurance and home collection scheduling.

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التحقق من التغطية التأمينية

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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.

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