Test Price
2,800 AED✅ Home Collection Available
KCTD7 Gene Genetic Test for Progressive Myoclonus Epilepsy Type 3 (EPM3) – Dubai, UAE
Executive Summary & Core Metrics
- ✓ 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 Consultant Medical Geneticist.
- ✓ Insurance: Direct Billing Verification via WhatsApp — send your policy details to +971 54 548 8731.
- ✓ Price: 2,800 AED (All‑inclusive, no hidden fees).
Why choose this test? This single-gene NGS analysis provides definitive diagnosis for Progressive Myoclonus Epilepsy Type 3 (EPM3), distinguishing it from clinically overlapping syndromes. It supports accurate prognosis, personalized anti‑epileptic therapy, and informed reproductive planning for affected families.
Test Overview & Methodology
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) |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) – full gene coverage ± 20 bp intronic flanking | Sanger 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 Time | 3–4 Weeks | 4–6 Weeks |
| Regulatory Alignment | Federal Decree-Law No. 45 of 2021 (PDPL) & Federal Law No. 2 of 2019 (ICT in Health) | May not comply fully with UAE genetic data privacy mandates |
Physician Insight & Safety Protocols
Empathetic Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Reg. ID: 9294403)
“Receiving a diagnosis of progressive myoclonus epilepsy is life-changing. This KCTD7 genetic test provides the definitive answers needed to guide management and counseling. However, interpreting genetic variants requires deep expertise. I strongly encourage all patients to engage in comprehensive pre- and post-test genetic counseling to fully navigate the clinical and emotional dimensions of this journey.”
Advisory Protocol & Patient Preparation
- Pre-Test Genetic Counseling: A detailed three‑generation pedigree chart must be constructed to document the family history of seizures and neurological regression.
- Clinical Documentation: Referral must include seizure semiology, age of onset, myoclonus progression, and prior EEG/imaging findings.
- Sample & Logistics: No fasting is required. Inform the phlebotomist of all current medications and supplements. Acceptable matrices: Whole Blood (EDTA tube), Extracted DNA (≥1µg, A260/280 1.8‑2.0), or FTA Card.
- Do not discontinue prescribed anti‑epileptic medication for this test without direct instruction from your treating neurologist.
Exclusion Criteria & Emergency Red Flags
- Strict Clinical Indication: Testing is not indicated for asymptomatic individuals without a family history of progressive myoclonus epilepsy, or solely for carrier screening in unrelated partners, unless formally recommended by a clinical geneticist.
- Pediatric Consent & Assent: In full compliance with UAE Federal Law, minors require documented legal guardian consent and age‑appropriate assent prior to sample collection.
- Emergency Red Flags: Seek immediate medical attention if you or a dependent experience status epilepticus (seizure lasting >5 minutes), sudden loss of ambulation due to severe myoclonus, or new difficulty swallowing or breathing.
Patient FAQ & Clinical Guidance
1. What is the KCTD7 Gene Genetic Test and who needs it?
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 intended for individuals presenting with clinical features suggestive of progressive myoclonic epilepsy, particularly when the onset occurs in early childhood. It distinguishes EPM3 from other progressive myoclonic epilepsies, aids in accurate prognosis, and informs reproductive risk for extended family members.
2. How is the test performed and what sample is required?
A blood sample or pre‑extracted DNA is collected via our ISO‑certified mobile phlebotomy service between 8 AM and 11 PM daily. The specimen is transported under a temperature‑controlled cold chain to our CAP‑accredited laboratory. DNA is extracted and sequenced using NGS to cover the entire KCTD7 coding region, intronic boundaries, and copy number variants. A comprehensive clinical report is returned within 3–4 weeks.
3. What do the results (Positive, Negative, VUS) mean?
A Positive result identifies a known or likely pathogenic variant confirming the diagnosis of EPM3. A Negative result significantly reduces the likelihood of EPM3 but may not exclude it if clinical suspicion remains high; further comprehensive epilepsy panel testing may be considered. A Variant of Uncertain Significance (VUS) requires careful segregation analysis and phenotype correlation — our genetic counselor will arrange family studies to clarify its clinical relevance.
UAE Regulatory & Data Privacy Adherence
Your Data and Rights are Protected Under UAE Law
This clinical service is performed under the regulatory oversight of the Dubai Health Authority (DHA License: 1143). All patient genetic data is considered highly sensitive and is processed strictly in accordance 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. Clinical safety, consent, and liability protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE implements robust encryption, access control, and data minimization practices to ensure absolute confidentiality and security of your genomic information.
Clinical & Logistical Metadata
| Test Name | KCTD7 Gene Genetic Test (Progressive Myoclonus Epilepsy Type 3, EPM3) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) – Full gene coverage ±20 bp intronic flanking, CNV analysis |
| ICD-10-CM Code | G40.3 |
| LOINC Code | 42629-7 |
| DHA Facility License & Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
For same-day booking and insurance verification, contact us on WhatsApp: +971 54 548 8731
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