Test Price
2,800 AED✅ Home Collection Available
PLCB1 Gene Sequencing for Early Infantile Epileptic Encephalopathy Type 12 (EIEE12) – Next-Generation Sequencing Diagnostic Test
Executive Summary & Core Metrics
Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified next-generation sequencing (NGS) processing with full PLCB1 gene coverage.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM for standard blood specimens.
- Clinical Guidance: Complimentary telephonic post-test clinical guidance from a board-certified genetics consultant to interpret results and coordinate care.
- Insurance Support: Direct billing verification available via WhatsApp at +971 54 548 8731.
- Turnaround Time: 3 to 4 weeks from sample receipt to final clinical report signed by a Consultant Medical Geneticist.
Test Overview & Methodology
This NGS-based genetic test sequences the entire coding region and exon-intron boundaries of the PLCB1 gene to identify pathogenic and likely pathogenic variants causing Early Infantile Epileptic Encephalopathy Type 12 (EIEE12). EIEE12 is a severe neurodevelopmental disorder characterized by early-onset, intractable seizures, profound developmental delay, and distinctive electroencephalographic abnormalities. Definitive molecular diagnosis through full-gene sequencing enables targeted antiepileptic therapy, accurate prognostic counseling, and informed family planning decisions.
| Feature | PLCB1 NGS Test (DNA Labs UAE) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity and specificity across all exons | ~99% for targeted hotspot regions only |
| Method | Next-Generation Sequencing with full gene coverage including splice sites | Sanger sequencing limited to known mutational hotspots |
| Turnaround Time | 3 to 4 weeks | 4 to 6 weeks |
| Reporting Depth | Comprehensive variant interpretation per ACMG guidelines with clinical correlation | Limited to sequence changes in targeted exons; no deep intronic analysis |
Physician Insight & Safety Protocols
“Families facing early infantile seizures carry an emotional burden that is difficult to articulate. This PLCB1 gene sequencing test provides a definitive molecular diagnosis for EIEE12, which can directly guide antiepileptic medication selection and long-term neurodevelopmental surveillance. However, genetic results must be interpreted in conjunction with continuous EEG monitoring, neuroimaging, and clinical assessment by a pediatric neurologist. A negative result does not exclude other genetic etiologies; comprehensive epilepsy panel testing may be considered as a next step if clinical suspicion remains high.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
⚠️ Important Medication Notice
Never discontinue or alter prescribed antiepileptic drugs or any concurrent medications without direct consultation with the treating pediatric neurologist. Abrupt cessation of antiseizure medications can precipitate status epilepticus, a life-threatening emergency. This test is intended to guide therapy, not to replace existing treatment protocols.
Patient Exclusion Criteria & Emergency Red Flags
Exclusion Criteria & Mandatory Pre-Test Counseling
- Pre-Test Genetic Counseling Required: All patients must undergo mandatory pre-test genetic counseling to review family history, construct a three-generation pedigree, and discuss the potential implications of all possible results—including incidental findings. This counseling session must be documented prior to sample collection, in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability. For minors, written consent from a parent or legal guardian is mandatory.
- Emergency Red Flags: If the child experiences prolonged seizures lasting more than five minutes (status epilepticus), apnea, loss of consciousness, cyanosis, or severe hypotonia, seek immediate emergency medical care at the nearest hospital. Do not delay emergency treatment while awaiting genetic test results.
Patient FAQ & Clinical Guidance
1. What is PLCB1 gene sequencing and why is it recommended for my infant with early-onset seizures?
PLCB1 gene sequencing is a next-generation genetic test that reads the entire PLCB1 gene to detect harmful variants that cause Early Infantile Epileptic Encephalopathy Type 12 (EIEE12). This condition presents within the first months of life with frequent, difficult-to-control seizures, developmental stagnation, and characteristic brain wave patterns. Establishing a genetic diagnosis allows the care team to select the most appropriate antiseizure medication, anticipate associated medical needs such as feeding difficulties or respiratory complications, and provide the family with a clearer prognosis and recurrence risk information for future pregnancies.
2. What sample types are accepted and how is home collection arranged?
DNA Labs UAE accepts whole blood (3–5 mL in EDTA tube), extracted DNA (minimum 1 µg at 50 ng/µL), or a single dried blood spot on an FTA card. Our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM, dispatching a licensed phlebotomist to your residence for hospital-grade venipuncture using temperature-controlled cold-chain transport directly to our ISO 9001:2015 certified laboratory. All samples are tracked under strict chain-of-custody protocols and processed within 24 hours of receipt to ensure nucleic acid integrity.
3. How are results delivered and what post-test support is provided?
Final results are delivered within 3 to 4 weeks of sample receipt. The comprehensive clinical report includes variant classification per ACMG/AMP guidelines, predicted protein-level consequences, population frequency data, and disease-specific clinical recommendations. Every patient receives a complimentary telephone consultation with our Consultant Medical Geneticist to review the report, answer questions, and coordinate referrals to pediatric neurology or clinical genetics services as needed. Additional family variant testing or prenatal counseling can be arranged upon request.
UAE Regulatory & Data Privacy Adherence
Comprehensive Data Protection & Regulatory Compliance
- Personal Data Protection: All patient genetic data, clinical records, and personally identifiable information are processed, stored, and transmitted in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Our laboratory employs encryption-at-rest and encryption-in-transit protocols, role-based access controls, and annual third-party security audits to safeguard sensitive genomic information.
- Health Information Governance: Laboratory information systems and electronic health record interfaces comply with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring that all digital health data exchange meets federal interoperability and confidentiality standards.
- Patient Safety & Consent Framework: Pre-test genetic counseling and informed consent procedures adhere to the clinical governance requirements of Federal Decree-Law No. 4 of 2016 on Medical Liability, which mandates documented shared decision-making and explicit patient authorization before any genetic testing is performed. This law also governs our adverse event reporting and clinical risk management protocols.
- DHA Licensing & Oversight: DNA Labs UAE operates under DHA Facility License No. 1143 and is subject to ongoing inspection and quality assurance oversight by the Dubai Health Authority. Our laboratory participates in external quality assessment programs for molecular genetics and maintains continuous ISO 9001:2015 certification.
Clinical & Logistical Metadata
| Test Name | PLCB1 Gene Sequencing (Early Infantile Epileptic Encephalopathy Type 12 / EIEE12) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coding exons and exon-intron boundaries |
| ICD-10-CM Code | G40.82 (Epileptic encephalopathy) |
| LOINC Code | 95431-1 (PLCB1 gene mutation analysis) |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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