Test Price
2,800 AEDโ Home Collection Available
KCNC1 Gene Epilepsy, Progressive Myoclonic Type 7 Genetic Test in UAE | AED 2,800 | DNA Labs UAE
Executive Summary & Core Metrics
Guaranteed 99.9% Diagnostic Sensitivity via Next-Generation Sequencing (NGS) analyzed at an ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM ensures specimen integrity. Complimentary post-test telephonic clinical guidance by a DHA-licensed Consultant Medical Geneticist. Direct insurance billing verification via WhatsApp at +971 54 548 8731. This molecular confirmation empowers precise therapy selection, prognostic clarity, and cascade screening for at-risk family members.
Core Metrics: Price AED 2,800 | Turnaround 14โ21 Business Days (3โ4 calendar weeks) | Specimen: Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) | Methodology: Full-gene NGS with ~1000x coverage.
Test Overview & Methodology
The KCNC1 Gene Epilepsy, Progressive Myoclonic Type 7 Genetic Test employs next-generation sequencing to analyze the complete coding region and splice sites of the KCNC1 gene. It detects pathogenic variants causative of progressive myoclonic epilepsy type 7 (EPM7), a severe autosomal dominant or de novo condition characterized by action myoclonus, tonic-clonic seizures, and progressive neurological decline. Definitive molecular diagnosis enables tailored antiepileptic drug selection, accurate prognosis, and informed family planning through genetic counseling.
Test Comparison: NGS vs. Alternative Methods
| Feature | Our Test (NGS) | Sanger / Panel Alternative |
|---|---|---|
| Methodology | Full-gene NGS (exons + splice sites) | Single-gene Sanger or broad epilepsy panel |
| Diagnostic Sensitivity | >99.9% (deep coverage ~1000x) | Variable, may miss deep intronic mutations |
| Turnaround Time | 14โ21 Business Days | 6 to 8 Weeks (panel) or similar |
| Reporting | Clinically actionable insights + genetic counseling note | Interpretation often limited |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh โ Consultant Medical Genetics | DHA Registration ID: 9294403
Genetic confirmation of a KCNC1 pathogenic variant provides a definitive etiological diagnosis for progressive myoclonic epilepsy, which is essential for guiding precision therapy and avoiding unnecessary investigations. I strongly recommend that every positive result be followed by formal genetic counseling to address recurrence risks and to coordinate cascade testing for first-degree relatives when appropriate. This test is a powerful diagnostic tool, but its results must always be interpreted within the full clinical context including EEG patterns and seizure semiology.
Important Advisory โ Medication Continuity
Abrupt discontinuation of prescribed antiepileptic drugs can precipitate life-threatening seizures or status epilepticus. Do not modify or stop your medication regimen without direct guidance from your treating neurologist. Always carry a current medication list and emergency contact information.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active infection at the venipuncture site, severe anemia contraindicating blood draw, or inability to provide valid informed consent (minors require documented parental/guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Emergency Red Flags: Call 998 immediately if a seizure persists beyond 5 minutes, breathing becomes compromised, consciousness is lost, or recurrent seizures occur without full recovery between episodes.
- Pediatric Note: Genetic testing for individuals under 18 years requires written parental consent and is conducted in coordination with a pediatric neurologist.
Patient FAQ & Clinical Guidance
1. What does a positive KCNC1 gene test indicate?
A positive result confirms a pathogenic or likely pathogenic variant in the KCNC1 gene, establishing a definitive molecular diagnosis of progressive myoclonic epilepsy type 7 (EPM7). This finding enables your neurologist to optimize antiepileptic drug selection, anticipate disease progression, and offer cascade screening to at-risk family members. The result does not quantify seizure severity or frequency; clinical correlation with EEG and neurological examination remains essential.
2. How is the specimen collected and when will results be ready?
A DHA-certified phlebotomist will collect 2โ5 ml of whole blood in an EDTA tube at your home between 8 AM and 11 PM. Alternatively, extracted DNA or a dried blood spot on an FTA card is accepted. The sample is transported under strict temperature-controlled cold-chain to our ISO-certified laboratory. Results are delivered within 14โ21 business days and include a detailed molecular report with variant classification, clinical interpretation, and a genetic counseling summary.
3. Will my health insurance cover this genetic test in the UAE?
Many UAE health insurance plans cover medically necessary genetic testing for epilepsy. Our team can verify your coverage via WhatsApp at +971 54 548 8731 within one business hour, ensuring full transparency before any financial commitment. Direct billing arrangements are available with most major insurers.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
This diagnostic service complies 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. All genetic data is encrypted at rest and in transit, stored on UAE-based servers, and accessible only to authorized clinical personnel. Patient consent and minor consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. For privacy-related inquiries, contact our Data Protection Officer via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | KCNC1 Gene Epilepsy, Progressive Myoclonic Type 7 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 14โ21 Business Days (3โ4 Calendar Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full-Gene Coding Region & Splice Site Analysis |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 93755-4 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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