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Test Price

2,800 AED

✅ Home Collection Available

PRPS1 Gene Sequencing for X‑Linked Deafness Type 1 (DFNX1) – NGS Test in UAE | 2800 AED

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS laboratory.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
  • Clinical Guidance: Complimentary post‑test telephonic interpretation with a DHA‑licensed Consultant Medical Geneticist.
  • Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This advanced NGS test identifies pathogenic variants in the PRPS1 gene responsible for X‑linked deafness type 1 (DFNX1), providing a definitive molecular diagnosis and enabling accurate family risk assessment. The assay covers the entire coding region and exon‑intron boundaries with high‑depth sequencing, with results returned within 3–4 weeks to guide audiological management and genetic counselling.

Feature Our NGS Test Closest Alternative (Sanger Sequencing)
MethodNext‑Generation Sequencing (NGS)Sanger Sequencing
Diagnostic Sensitivity99.9% (full gene coverage)>99% (targeted single‑exon)
Turnaround Time3–4 Weeks4–6 Weeks
Sample TypesWhole blood, Extracted DNA, FTA cardWhole blood, DNA
Pre‑test Genetic CounsellingIncluded (pedigree chart)Often separate

Physician Insight & Safety Protocols

“As a Consultant Medical Geneticist, I emphasise that while the PRPS1 gene test delivers critical diagnostic clarity, it must always be interpreted alongside a complete audiological evaluation and clinical phenotype. Early molecular diagnosis empowers families with timely interventions such as cochlear implants, educational support, and informed reproductive choices, significantly enhancing quality of life.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

⚠️ Medication Advisory

Do not discontinue any prescribed medication without consulting your doctor. Changes in treatment regimen may exacerbate hearing loss or related symptoms.

Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: Known bleeding disorders, active external/middle ear infection, recent otic surgery (within 4 weeks), inability to provide informed consent.
  • ER Red Flags: Sudden severe sensorineural hearing loss, acute vertigo with nystagmus, facial palsy, or new focal neurological deficits are medical emergencies – proceed to the nearest emergency department immediately; a genetic test is not appropriate for acute evaluation.

Patient FAQ & Clinical Guidance

1. What is the PRPS1 gene and its role in hearing loss?

The PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1, an enzyme essential for purine and pyrimidine synthesis; pathogenic mutations cause X‑linked sensorineural deafness type 1, primarily affecting male patients.

2. Who should consider this genetic test?

Individuals with a family history of early‑onset X‑linked hearing loss, males with unexplained progressive deafness, or female carriers planning pregnancy to determine recurrence risk are ideal candidates.

3. How long does it take to receive results, and what is the cost?

Results are delivered within 3 to 4 weeks, and the test is priced at 2,800 AED, inclusive of pre‑ and post‑genetic counselling and clinical support.

UAE Regulatory & Data Privacy Adherence

Data Privacy & Protection: Your personal and genetic data are handled in strict 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. Clinical testing and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All laboratory procedures adhere to ISO standards and DHA regulations.

Clinical & Logistical Metadata

Test Name PRPS1 Gene Sequencing for X‑Linked Deafness Type 1 (DFNX1) – NGS
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole blood (EDTA), Extracted DNA, FTA card
Methodology Used Next‑Generation Sequencing (NGS) – Whole gene coding region + exon‑intron boundaries
ICD-10-CM Code H90.3
LOINC Code 76943-6
DHA Facility License & Address Facility License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE

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