Test Price
2,800 AED✅ Home Collection Available
MARVELD2 Gene NGS Test (Autosomal Recessive Deafness Type 49 – DFNB49) in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited next-generation sequencing and clinically validated bioinformatics pipeline.
- Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post-test result interpretation with a DHA-licensed genetic counsellor in English.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731 for major UAE health networks.
Test Overview & Methodology
The MARVELD2 gene NGS test (Autosomal Recessive Deafness-49, DFNB49) identifies pathogenic variants in the MARVELD2 gene causing congenital or early-onset sensorineural hearing loss. This next-generation sequencing analysis supports accurate diagnosis, carrier screening, and family planning for at-risk individuals and families in the UAE.
| Feature | Our MARVELD2 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity for SNVs and small indels | ~99% – limited to known coding regions |
| Methodology | NGS with full gene coverage and MLPA backup for CNVs | Capillary Sanger, no CNV detection |
| Turnaround Time | 3–4 weeks (expedited available) | 6–8 weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasise that a confirmed MARVELD2 pathogenic variant establishes the molecular diagnosis of DFNB49, yet comprehensive audiological evaluation and detailed pedigree analysis are indispensable for accurate genetic counselling. This test empowers families with reproductive options, but all results must be interpreted within the full clinical context by a qualified genetics professional.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Advisory
All patients must complete mandatory pre-test genetic counselling with a DHA-licensed genetic counsellor before sample collection. A three-generation pedigree chart will be constructed to assess inheritance patterns and recurrence risks. Post-test, a follow-up consultation is scheduled to review variant classification and clinical recommendations.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Acute onset hearing loss (<72 hours) requiring emergency ENT evaluation; confirmed non-genetic aetiology (e.g., acoustic trauma, meningitis within 3 months); refusal to participate in mandatory pre-test genetic counselling.
- ER Red Flags – Seek Immediate Medical Attention: Sudden unilateral hearing loss with vertigo or tinnitus; rapidly progressive hearing loss accompanied by neurological signs (facial weakness, ataxia); severe ear pain with otorrhoea or bleeding.
Patient FAQ & Clinical Guidance
1. What is the MARVELD2 gene and how does it cause deafness?
The MARVELD2 gene encodes a tight junction protein critical for inner ear hair cell function; its mutations cause autosomal recessive deafness-49 (DFNB49). Pathogenic variants disrupt the blood-labyrinth barrier, leading to progressive sensorineural hearing loss usually diagnosed in infancy or early childhood. Carrier frequency is elevated in populations with consanguinity, making genetic testing vital for at-risk families.
2. Who should consider this MARVELD2 genetic test?
Individuals with bilateral congenital sensorineural hearing loss, especially from consanguineous families, and couples planning pregnancy with a family history of deafness are prime candidates. The test is also indicated for siblings of confirmed DFNB49 patients, carrier screening in high-risk ethnic groups, and prenatal diagnosis when both parents are known carriers. A DHA-licensed genetic counsellor will assess eligibility during pre-test consultation.
3. How is the test performed and what is the turnaround time?
A simple blood draw, extracted DNA, or a drop of blood on an FTA card is collected during a 15-minute home visit; results are delivered within 3–4 weeks. The laboratory performs high-depth next-generation sequencing targeting the whole MARVELD2 gene, with deletion and duplication analysis via MLPA if required. A comprehensive report includes variant classification according to ACMG/AMP guidelines and clinical correlation recommendations.
4. What does a positive result mean for my family?
A positive result confirms a molecular diagnosis of DFNB49 and indicates that both parents are likely carriers. Siblings have a 25% recurrence risk for the same condition. Carrier screening for extended family members and reproductive options including preimplantation genetic testing are discussed during post-test genetic counselling. All identifiable at-risk relatives are offered cascade testing.
UAE Regulatory & Data Privacy Adherence
- All genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring encryption and sovereign cloud storage within the UAE.
- Health information handling adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing secure electronic medical records and telemedicine protocols.
- Clinical testing safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent and professional accountability.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139), reflecting robust quality management systems across all laboratory processes.
- Pre-test genetic counselling is mandatory; a three-generation pedigree chart is constructed for every proband undergoing MARVELD2 analysis.
Clinical & Logistical Metadata
| Test Name | MARVELD2 Gene NGS Test (Autosomal Recessive Deafness Type 49 – DFNB49) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks (Expedited Available) |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA for CNV Analysis |
| ICD-10-CM Code | H90.3, H90.4, Z14.8 |
| LOINC Code | 90423-7 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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