Test Price
2,800 AED✅ Home Collection Available
PLCB4 Gene Auriculocondylar Syndrome Type 2 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing with full PLCB4 gene coverage.
- Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection (daily 8 AM–11 PM).
- Clinical Guidance: Telephonic post-test genetic counseling with interpretation of results within clinical phenotype.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731; pre-approval assistance provided.
- Physician Oversight: Consultant Medical Geneticist Lina Osama Zaki Quteineh (DHA Registration ID: 9294403) supervises interpretation.
This NGS-based genetic test identifies pathogenic variants in the PLCB4 gene associated with Auriculocondylar syndrome type 2 (ARCND2), a rare autosomal dominant disorder characterized by micrognathia, ear malformations, and mandibular hypoplasia. Definitive molecular diagnosis enables personalized craniofacial surgical planning, audiological management, and recurrence risk assessment for at-risk families.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) assay performs comprehensive analysis of all coding exons and flanking splice regions of the PLCB4 gene (NM_001172652.2). The test achieves 99.9% sensitivity for single-nucleotide variants and small insertions/deletions, with a minimum read depth of 100x across all target regions. Variants are classified according to ACMG/AMP 2015 guidelines, and all pathogenic or likely pathogenic findings are confirmed via Sanger sequencing prior to reporting.
| Feature | Our NGS Test | Sanger Sequencing |
|---|---|---|
| Precision | 99.9% sensitivity, full gene coverage, indel detection | Detects known variants only, limited multiplexing |
| Methodology | Next-Generation Sequencing (NGS), Illumina platform | Capillary electrophoresis (Sanger) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price (AED) | 2,800 | ~3,000 |
| Sample Requirement | 2–5 mL whole blood in EDTA or extracted DNA (1 μg minimum) | 5–10 mL whole blood or extracted DNA |
Physician Insight & Safety Protocols
“As a consultant medical geneticist specializing in craniofacial disorders, I emphasize that while this NGS assay provides highly accurate molecular confirmation of PLCB4-related Auriculocondylar syndrome type 2, results must always be interpreted in the full context of clinical phenotype, family history, and segregation analysis. A positive finding should trigger a multidisciplinary evaluation involving craniofacial surgery, otolaryngology, audiology, and speech therapy. A negative result does not exclude other syndromic causes such as GNAI3-related ARCND1 or isolated micrognathia; therefore, comprehensive clinical correlation remains essential. Please always consult your referring physician for personalized medical advice.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Pre-Test Advisory & Contraindications
Important: This genetic test is intended for confirmatory diagnostic purposes only in individuals with clinical suspicion of Auriculocondylar syndrome type 2. It is not a screening test for the general population. Genetic counseling before and after testing is strongly recommended. Do not alter any current medical treatment, including surgical plans, without discussing results with your managing physician.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide adequate venous blood sample (alternative sample types such as extracted DNA or buccal swab may be used after physician approval), active systemic infection, known coagulopathy without hematology clearance.
- Emergency Red Flags: Acute respiratory distress due to severe glossoptosis or retrognathia, stridor, oxygen desaturation below 92%, inability to manage oral secretions, or feeding difficulties causing dehydration—seek emergency medical care immediately.
Patient FAQ & Clinical Guidance
1. What is the purpose of the PLCB4 gene test for Auriculocondylar syndrome type 2?
This test identifies disease-causing mutations in the PLCB4 gene to confirm a clinical diagnosis of Auriculocondylar syndrome type 2 (ARCND2). It guides surgical planning for mandibular distraction or ear reconstruction, enables prediction of recurrence risk in future pregnancies, and informs surveillance for associated complications such as hearing loss or obstructive sleep apnea. Results are typically available within 3–4 weeks after sample receipt.
2. How is the sample collected and what are the logistics?
A peripheral whole blood sample (2–5 mL in EDTA) is collected by our certified VIP mobile phlebotomy team at your home or office between 8 AM and 11 PM daily. The sample is transported under strict temperature-controlled cold-chain conditions (2–8°C) to our accredited laboratory in Dubai Healthcare City. Alternatively, you may visit our facility directly for sample collection. For patients unable to undergo venipuncture, extracted DNA or buccal swab samples may be accepted after prior approval.
3. Is this genetic test covered by insurance in the UAE?
Coverage depends on your specific insurance policy and medical necessity determination. We provide direct billing verification assistance—simply contact our support team via WhatsApp at +971 54 548 8731 with your policy details. Many UAE insurers recognize genetic testing for rare congenital disorders as medically necessary when ordered by a specialist. Our billing coordinators handle all pre-authorization paperwork on your behalf to maximize coverage.
4. How are test results delivered and interpreted?
Results are delivered via secure digital report within 3–4 weeks, with telephonic post-test genetic counseling provided by our consultant medical geneticist. The report includes variant classification (pathogenic, likely pathogenic, VUS, benign), relevant clinical recommendations based on ACMG/AMP guidelines, and follow-up suggestions. We recommend scheduling a discussion with your referring physician or our genetic counselor to understand the implications for surgical management and family planning.
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling comply 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 and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is accredited under ISO 9001:2015 (Cert. INT/EGQ/2509DA/3139) and holds valid DHA Facility License number 1143 for genetic testing services. All genetic data is encrypted, access-restricted, and processed exclusively within UAE jurisdiction.
Clinical & Logistical Metadata
| Test Name | PLCB4 Gene Auriculocondylar Syndrome Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), 2–5 mL; alternative: extracted DNA (≥1 μg) or buccal swab (with prior approval) |
| Methodology Used | Next-Generation Sequencing (NGS) with full coding exon and splice site coverage, minimum 100x read depth, Sanger confirmation of pathogenic variants |
| ICD-10-CM Code | Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance); specific code: Q16.0, Q18.8 |
| LOINC Code | 81347-8 (PLCB4 gene targeted mutation analysis in Blood or Tissue by NGS) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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