Test Price
2,800 AEDโ Home Collection Available
PNPT1 Gene Autosomal Recessive Deafness Type 70 (DFNB70) Genetic Test in UAE โ 2800 AED โ DHA Licensed
Executive Summary & Core Metrics
Achieve definitive genetic diagnosis with our ISO-certified PNPT1 NGS test, delivering >99.9% diagnostic sensitivity for DFNB70-associated sensorineural hearing loss. Includes VIP mobile phlebotomy with temperature-controlled cold-chain home collection, telephonic post-test genetic counseling, and direct insurance billing verification via WhatsApp +971 54 548 8731. All processes 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.
Test Overview & Methodology
The PNPT1 gene encodes polynucleotide phosphorylase, a critical mitochondrial enzyme for RNA turnover; biallelic pathogenic variants cause autosomal recessive non-syndromic hearing loss DFNB70. This Next-Generation Sequencing (NGS) test interrogates the entire coding region of PNPT1 with copy number variation detection, providing a precise molecular diagnosis that informs prognosis, cochlear implantation candidacy, and family cascade screening.
| Feature | Our PNPT1 NGS Test | Closest Alternative |
|---|---|---|
| Method | NGS (Illumina NovaSeq) with Sanger confirmation | Whole-exome sequencing or broad hearing-loss panel (may omit PNPT1) |
| Analytical Sensitivity & Specificity | >99.9% for SNVs and indels; CNV detection validated by MLPA backup | Variable; often <95% for non-targeted genes |
| Turnaround Time | 3โ4 Weeks (optional express 2-week upgrade) | 5โ6 Weeks |
| Genetic Counseling | Post-test telephonic session included | Often separate fee |
Physician Insight & Safety Protocols
โA molecular diagnosis of DFNB70 through PNPT1 sequencing provides families with clarity regarding the etiology of congenital hearing loss and guides decisions around cochlear implantation timing. This test is most informative when interpreted alongside clinical audiometry and a thorough family history. I encourage patients to view genetic results as one component of a comprehensive diagnostic evaluation, not a replacement for clinical assessment.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Genetic Testing Advisory & Precautions
A genetic test result for PNPT1 should never replace urgent clinical evaluation for sudden or rapidly progressive hearing loss. Patients presenting with acute audiologic decline, vertigo, or otorrhea require immediate ENT assessment. This test is designed for stable, non-urgent diagnostic workup of suspected hereditary hearing loss. Always correlate molecular findings with audiometric data before making treatment decisions.
Exclusion Criteria & Contraindications
- Inability to provide informed consent or unsuccessful DNA extraction from the provided sample. Minors require parental consent as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Sudden sensorineural hearing loss within 72 hours accompanied by vertigo or tinnitusโdo not delay emergency care for genetic testing.
- Acute ear pain, drainage, or fever with hearing loss; seek immediate medical attention to rule out infection or cholesteatoma.
Patient FAQ & Clinical Guidance
1. Who should consider the PNPT1 gene test?
Individuals with congenital or progressive sensorineural hearing loss and a family history consistent with autosomal recessive inheritance should consider PNPT1 testing to identify the genetic cause and guide clinical management. This includes children with unexplained bilateral hearing loss and adults with a family pattern of deafness affecting multiple siblings.
2. How does a positive result affect treatment decisions?
A positive PNPT1 result confirming DFNB70 supports early cochlear implantation eligibility, avoids unnecessary imaging or metabolic workup, and enables accurate recurrence risk counseling for family planning. It also provides prognostic information regarding the expected progression of hearing loss.
3. Is home blood collection available across all emirates?
Yes, VIP mobile phlebotomy with temperature-controlled cold-chain home collection is available daily from 8 AM to 11 PM in Abu Dhabi, Dubai, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah. Our phlebotomists follow ISO 9001:2015 protocols for specimen handling and transport.
4. What is the turnaround time and how do I receive results?
Standard turnaround is 3โ4 weeks from sample receipt. Results are delivered via secure electronic report and include a telephonic post-test genetic counseling session to explain findings, recurrence risks, and recommended follow-up. An express 2-week upgrade is available upon request.
UAE Regulatory & Data Privacy Adherence
This PNPT1 genetic test is performed under DHA Facility License Number 1143 at DNA Labs UAE. All patient data is processed 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. Specimen handling, genetic data storage, and result disclosure follow strict confidentiality protocols with encrypted transmission and access controls.
Clinical & Logistical Metadata
| Test Name | PNPT1 Gene Autosomal Recessive Deafness Type 70 (DFNB70) Genetic Test โ NGS Sequencing & CNV Analysis |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks (express 2-week upgrade available) |
| Sample Type / Matrix | Peripheral whole blood (3โ5 mL in EDTA tube) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AMโ11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq platform with Sanger confirmation; CNV detection via MLPA backup |
| ICD-10-CM Code | H90.5 (Sensorineural hearing loss, unspecified) |
| LOINC Code | 94854-8 (Hearing loss gene panel) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians