Test Price
2,800 AEDโ Home Collection Available
KCNQ2 Gene Sequencing (Benign Familial Neonatal Seizures Type 1) in Dubai โ 2800 AED
Executive Summary & Core Metrics
Core Services & Guarantees
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ 11 PM).
- Telephonic Post-Test Clinical Interpretation Support with a Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing test analyzes the entire coding region and splice sites of the KCNQ2 gene to confirm benign familial neonatal seizures type 1 (BFNS1), a self-limited treatable infant epilepsy syndrome. The result enables precise antiepileptic therapy selection and targeted family genetic counseling.
| Feature | Our Test (NGS with Sanger Confirmation) | Sanger Sequencing Only |
|---|---|---|
| Diagnostic Sensitivity | 99.9% (covers all exons, splice sites, and detects large deletions/duplications) | ~95% (may miss large deletions, duplications, or mosaicism) |
| Methodology | Next-Generation Sequencing with orthogonal Sanger confirmation | Sanger sequencing, exon-by-exon |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
Physician Insight & Safety Protocols
โAs a Consultant in Medical Genetics, I recognize the profound anxiety families experience when a newborn presents with unexplained seizures. The KCNQ2 gene test provides molecular clarity that guides targeted therapy and prognostic counseling. However, results must always be interpreted within the full clinical context, including EEG findings and phenotypic evaluationโnever in isolation. A positive finding empowers precision medicine; a negative result does not exclude all genetic etiologies.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Reg: 9294403
โ ๏ธ Critical Medication Advisory
Do not discontinue, adjust, or initiate any antiepileptic medication for your infant without direct consultation with the treating paediatric neurologist. Abrupt changes may precipitate breakthrough seizures or status epilepticus.
Exclusion Criteria & Emergency Red Flags
- This test is indicated only for infants with clinical suspicion of KCNQ2-related neonatal epilepsy or a documented family history of benign familial neonatal seizures. It is not a population screening tool.
- Parental or legal guardian consent is mandatory for all minors, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency red flags requiring immediate ER evaluation: seizure lasting longer than 5 minutes, status epilepticus, respiratory distress, cyanosis, loss of consciousness, or post-ictal unresponsiveness lasting more than 30 minutes.
Patient FAQ & Clinical Guidance
1. What is the KCNQ2 gene test and how does it help my newborn?
Quick Answer: The KCNQ2 gene test identifies pathogenic mutations causing benign familial neonatal seizures, enabling a precise diagnosis, accurate prognosis, and targeted treatment plan while avoiding unnecessary polypharmacy.
This NGS-based assay examines the entire coding sequence of KCNQ2, a gene responsible for a self-limited neonatal epilepsy syndrome often triggered by fever, fatigue, or mild stress. A confirmed molecular diagnosis guides paediatric neurologists to select appropriate antiseizure medication, typically with excellent developmental outcomes, and provides reassurance to families.
2. How is the sample collected and is it painful for my baby?
Quick Answer: A gentle heel-prick blood spot or a simple buccal cheek swab collects DNA safely from your newborn with minimal discomfort.
Our certified paediatric phlebotomists use a clinically validated heel-prick method to collect a few drops of blood onto an FTA card, or alternatively obtain a painless buccal swab. The entire procedure takes under two minutes and is performed during a scheduled home visit or at our Dubai Healthcare City facility.
3. How long does it take to get results and what happens afterward?
Quick Answer: Results are available within 3 to 4 weeks, followed by a complimentary teleconsultation with a Consultant Medical Geneticist for detailed interpretation and next steps.
Once sequencing and bioinformatic analysis are complete, a comprehensive clinical report is issued. We then schedule a teleconsultation with our Consultant Medical Geneticist to explain the findings, discuss any medication adjustments with your paediatric neurologist, and facilitate genetic counseling for extended family members.
4. Will my insurance cover this test and how do I verify?
Quick Answer: Coverage depends on your insurance plan. Send a copy to our WhatsApp billing team at +971 54 548 8731 for a direct eligibility and copay check.
We accept most major UAE health insurance plans. Contact our dedicated billing support via WhatsApp with your policy details and member ID. We will verify your outpatient genetic testing benefits and provide a pre-authorization estimate within 24 business hours.
UAE Regulatory & Data Privacy Adherence
Legal & Compliance Framework
- Data Protection: All genetic data is processed and stored 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.
- Medical Liability & Consent: Patient safety protocols and informed consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
- Pre-Test Requirement: A formal genetic counseling session must be completed prior to sample collection to draw a comprehensive pedigree and document informed consent.
Clinical & Logistical Metadata
| Test Name | KCNQ2 Gene Sequencing (Benign Familial Neonatal Seizures Type 1) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Buccal Swab, or FTA Card Blood Spot โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) with Orthogonal Sanger Confirmation |
| ICD-10-CM Code | G40.3 (Generalized idiopathic epilepsy and epileptic syndromes) |
| LOINC Code | 94218-6 (KCNQ2 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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