Test Price
2,800 AED✅ Home Collection Available
PJVK Gene (DFNB59) Sequencing Test – Hereditary Hearing Loss Genetic Screening | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Executive Summary: The PJVK (DFNB59) gene sequencing test delivers 99.9% diagnostic accuracy for autosomal recessive non-syndromic sensorineural hearing loss through ISO-accredited next-generation sequencing with copy number variation analysis. The service includes VIP mobile phlebotomy with temperature-controlled cold-chain home collection, telephonic post-result genetic counseling, and direct insurance verification.
- Accuracy Guarantee: 99.9% diagnostic sensitivity and specificity via NGS with CNV analysis (ISO 9001:2015 accredited).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test result interpretation with a DHA-licensed genetic counselor.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Pejvakin, encoded by the PJVK gene at the DFNB59 locus, is essential for normal auditory pathway function. Pathogenic variants in PJVK cause autosomal recessive non-syndromic sensorineural hearing loss (DFNB59), typically presenting in early childhood. Our test employs full-gene next-generation sequencing (NGS) with copy number variation (CNV) analysis, covering all coding exons and ±20 bp splice-junction regions aligned to the GRCh38 reference genome. The assay detects single-nucleotide variants, small insertions and deletions, and large structural rearrangements across the entire PJVK coding region.
| Feature | Our Test – PJVK NGS with CNV | Closest Alternative – Single Gene Sanger |
|---|---|---|
| Precision | 99.9% analytical sensitivity and specificity | ~99% sensitivity; misses large rearrangements |
| Method | NGS with CNV calling (full gene + splice junctions) | Capillary sequencing of selected exons only |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403):
"Genetic testing for hereditary hearing loss demands careful pre- and post-test counseling. This assay identifies pathogenic variants in the PJVK gene but does not evaluate acquired causes of hearing impairment. Results must be interpreted alongside a complete audiological evaluation, family pedigree, and clinical examination. I strongly advise all patients and families to consult with a qualified ENT specialist and a genetic counselor prior to making any treatment or management decisions based solely on this genetic report."
Clinical Advisory
Do not discontinue or modify any prescribed hearing-related medications, therapies, or interventions without consulting your treating physician. This genetic test is intended for diagnostic confirmation and family planning guidance only. It is not a standalone treatment directive and should always be integrated with comprehensive clinical assessment.
Exclusion Criteria & Safety Red Flags
- Exclusion: Acquired hearing loss due to infection, noise exposure, or ototoxic medications is not evaluated by this genetic test.
- Red Flags: If you experience sudden unilateral hearing loss, severe vertigo, acute tinnitus, or purulent ear discharge, seek emergency medical attention immediately.
- Minors: In accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, a legal guardian must provide written informed consent and be present during sample collection for any minor patient.
Patient FAQ & Clinical Guidance
1. What is the PJVK gene test used for?
This test identifies pathogenic variants in the PJVK gene that cause autosomal recessive non-syndromic sensorineural hearing loss (DFNB59). It enables early diagnosis, informs prognosis, and supports family planning and management decisions for affected individuals and their families.
2. How is the sample collected for this test?
A peripheral whole blood sample (3–5 mL in an EDTA tube), extracted DNA, or a dried blood spot on an FTA card is collected by a DHA-licensed phlebotomist during your scheduled home visit. The specimen is transported under temperature-controlled cold chain to the laboratory for processing.
3. When will I receive my results?
Results are delivered within 3 to 4 weeks via a secure electronic portal. An optional telephonic interpretation session with a DHA-licensed genetic counselor is available to help you understand the findings and their clinical implications.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates 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. All genetic data is encrypted, access-restricted, and processed solely for validated diagnostic purposes. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and adheres to DHA standards for genetic testing and patient data confidentiality. Clinical safety and informed consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | PJVK Gene (DFNB59) Sequencing – Hereditary Hearing Loss Genetic Screening |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with Copy Number Variation (CNV) Analysis |
| ICD-10-CM Code | Z15.89, H90.3, Z13.71 |
| LOINC Code | 48766-5 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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