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Test Price

2,800 AED

✅ Home Collection Available

GJB2 Gene (KID Syndrome) Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

  • 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
  • Telephonic Post-Test Clinical Guidance by a Consultant Medical Geneticist for expert result interpretation.
  • Direct Billing Verification & Insurance Support via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This next-generation sequencing (NGS) test comprehensively analyzes the entire coding region and splice sites of the GJB2 gene to detect pathogenic variants responsible for Keratitis-Ichthyosis-Deafness (KID) syndrome, an autosomal dominant disorder characterized by vascularizing keratitis, ichthyotic skin plaques, and congenital sensorineural deafness. The assay delivers a molecular diagnosis with 99.9% sensitivity, empowering ENT, dermatology, and ophthalmology specialists to tailor lifelong surveillance and management strategies.

Feature Our Test (GJB2 NGS) Closest Alternative (Sanger Single-Exon)
Methodology Full gene Next-Generation Sequencing (NGS) Targeted Sanger sequencing (one exon at a time)
Diagnostic Sensitivity 99.9% (all exons & splice sites covered) ~95% (misses deep intronic variants)
Turnaround Time 3–4 Weeks 6–8 Weeks (stepwise testing)
Price (AED) 2,800 ≥3,500 (cumulative)

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics specializing in hereditary skin and hearing disorders, I recognize the significant emotional and clinical weight of pursuing a definitive diagnosis for a rare syndrome like KID. This single-gene NGS test provides unparalleled molecular clarity, enabling targeted surveillance for corneal perforation, tailored dermatologic therapies, and appropriate audiological rehabilitation. However, a negative result must always be interpreted in the complete clinical context—audiometry, slit-lamp examination, and dermatological evaluation remain indispensable. Do not alter or discontinue any prescribed medication or therapy without consulting your managing specialist; the genetic result is one critical piece of the diagnostic puzzle.

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

Important Medication & Clinical Advisory

Do not stop, start, or modify any treatment for keratitis, ichthyosis, or hearing loss based solely on the results of this genetic test. All therapeutic decisions must be made in conjunction with your managing physician or specialist. This test is intended to confirm a clinical diagnosis and guide surveillance; it is not a stand-alone treatment protocol. Always consult your healthcare provider before making any changes to your medical regimen.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Active bleeding disorders, inability to provide informed consent, or lack of a detailed three-generation pedigree for comprehensive segregation analysis.
  • Exclusion: Patients who decline mandatory pre-test genetic counselling; a counselling session is required prior to sample collection to ensure informed decision-making.
  • Emergency Red Flags: Sudden progression of hearing loss, acute eye pain with vision changes, or rapid spread of skin superinfection—these require immediate emergency room evaluation, not solely genetic testing.
  • Red Flag: Any sign of severe keratitis with suspected corneal perforation warrants urgent ophthalmologic intervention and should not be delayed for genetic confirmation.

Patient FAQ & Clinical Guidance

1. What is the purpose of the GJB2 gene test for KID syndrome?

This genetic test identifies pathogenic mutations in the GJB2 gene to confirm a clinical diagnosis of keratitis-ichthyosis-deafness (KID) syndrome and guide multidisciplinary care for affected individuals. It is recommended for patients presenting with hallmark clinical signs—vascularizing keratitis, ichthyotic skin plaques, and congenital sensorineural deafness—as well as for at-risk family members. The comprehensive report includes full variant interpretation according to ACMG guidelines, clinical significance, and recommendations for specialist follow-up and surveillance.

2. How is the sample collected and is home collection available?

We offer a painless blood draw via our VIP Mobile Phlebotomy service or a self-collected dried blood spot (FTA card), both processed under strict temperature-controlled cold-chain logistics. Our DHA-licensed phlebotomists conduct home visits daily from 8 AM to 11 PM, ensuring sample integrity with ISO-certified transport protocols. You may also opt to have an extracted DNA sample (≥1 µg) provided directly by your referring hospital or clinic.

3. How long does it take to receive results and what is included in the report?

Final NGS reports are delivered within 3–4 weeks from the receipt of an adequate sample and signed consent. The report details detected variants classified according to ACMG guidelines, provides a risk assessment for relatives, and suggests targeted clinical surveillance protocols. A post-test teleconsultation with a genetic counsellor is included to explain the findings in plain language and discuss implications for family members.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE strictly complies with all applicable UAE federal laws governing genetic data and patient safety:

  • Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring absolute confidentiality and security of your genetic information.
  • Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating our telehealth, digital reporting, and health data exchange platforms.
  • Federal Decree-Law No. 4 of 2016 on Medical Liability – governing patient safety, informed consent protocols, and clinical accountability.

Your genetic data is stored on secured, encrypted servers and is never shared with third parties without your explicit, written consent.

Clinical & Logistical Metadata

Test Name GJB2 Gene (KID Syndrome) Sequencing
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood (EDTA), Extracted DNA (≥1 µg), or Dried Blood Spot (FTA Card)
Methodology Used Next-Generation Sequencing (NGS)
ICD-10-CM Code Q80.8
LOINC Code 21629-6
DHA Facility License & Address DNA Labs UAE | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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