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Test Price

1,100 AED

✅ Home Collection Available

Connexin 30 (GJB6) Mutation Detection Test in UAE | 1100 AED | DHA Licensed Laboratory

Executive Summary & Core Metrics

🧬 Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Sanger Sequencing & PCR).

🏥 Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.

🩺 Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a DHA-licensed specialist.

💰 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Key Differentiators

  • Targeted GJB6 variant detection with 100% coding region coverage
  • 10 working day turnaround — 4x faster than exome alternatives
  • DHA licensed facility with ISO 9001:2015 certified processes
  • Post-test telephonic consultation included with every report

Test Overview & Methodology

The Connexin 30 (GJB6) Mutation Detection Test identifies deletions and sequence variants in the GJB6 gene, a leading cause of autosomal recessive non-syndromic sensorineural hearing loss (DFNB1). This molecular assay is recommended for newborns with failed otoacoustic emission (OAE) screening, children with delayed speech, and adults with familial deafness to confirm genetic etiology. Early genetic diagnosis enables timely intervention with cochlear implants, hearing aids, and family genetic counseling.

Test FeatureOur Connexin 30 (GJB6) TestClosest Alternative (Whole Exome Sequencing)
PrecisionTargeted Sanger sequencing & deletion/duplication analysis (100% coverage of GJB6 coding regions)Broad exome with variable coverage; may miss deep intronic mutations
MethodISO 9001:2015-certified PCR & Sanger SequencingNext-Generation Sequencing with confirmatory Sanger
Turnaround Time10 working days4–8 weeks
Specificity for DeafnessDirect pathogenic variant detection in DFNB1 locusIncidental findings common
Price1100 AED~3500 AED

Physician Insight & Safety Protocols

“A definitive genetic diagnosis for a child with unexplained hearing loss ends what is often an exhausting cascade of tests and referrals. Identifying a pathogenic GJB6 variant allows us to move immediately toward evidence-based interventions — cochlear implant evaluation, speech therapy planning, and informed family counseling. However, clinicians must interpret these results within the full audiologic and neurologic context; no single assay replaces comprehensive clinical assessment.”

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

Important Safety & Exclusion Criteria

⚠️ Clinical Advisory

  • Exclusion: This test is not indicated for acquired conductive hearing loss secondary to otitis media, trauma, or ototoxic drugs.
  • Emergency Red Flags: Sudden sensorineural hearing loss with vertigo, tinnitus, or focal neurological deficit requires immediate ER evaluation — do not delay for genetic testing.
  • Medication Warning: Do not discontinue prescribed medications (e.g., steroids for sudden hearing loss, anti-epileptics) without consulting your treating physician.
  • Sample Integrity: Specimen must be 4 mL (2 mL min.) whole blood in a Lavender top (EDTA) tube, shipped refrigerated. DO NOT FREEZE.

Specimen Requirements & Logistics

Pre-Test Logistics

  • Mandatory Form: Duly filled Genomics Clinical Information Requisition Form (Form 20) is required for sample acceptance.
  • Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated; never freeze.
  • Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. WhatsApp +971 54 548 8731 to schedule.
  • Insurance Verification: Direct billing pre-approval via WhatsApp before sample collection.
  • TAT: Samples must be received by Saturday 11 AM; report delivered within 10 working days.

Patient FAQ & Clinical Guidance

1. What is Connexin 30 mutation testing and who should consider it?

Connexin 30 (GJB6) mutation analysis is a DNA-based test that precisely identifies genetic deletions and mutations in the GJB6 gene responsible for autosomal recessive non-syndromic deafness (DFNB1). It is strongly recommended for newborns who refer on hearing screening, children with unexplained bilateral sensorineural hearing loss, and adults with a family history of congenital deafness. Early detection guides audiological rehabilitation and family planning.

2. How is the Connexin 30 test performed in the UAE and when can I expect results?

A small blood sample (4 mL) is collected from your arm using a Lavender top EDTA tube by a DHA-licensed phlebotomist during a home or clinic visit, and the specimen is immediately refrigerated for cold-chain transport to our ISO-certified laboratory. The DNA is extracted and analyzed via PCR amplification and Sanger sequencing. Results are reported within 10 working days from the Saturday morning cut-off, and a telephonic post-consultation is included to explain the findings in plain language.

3. What do my results mean and what follow-up is required?

A positive result confirms the presence of a pathogenic GJB6 mutation, establishing a genetic basis for hearing loss and enabling targeted interventions such as cochlear implant candidacy assessment and genetic counseling for relatives. A negative result does not rule out all genetic causes; your physician may recommend expanded panel testing. All patients should continue audiological monitoring and speech-language therapy as advised. Never alter hearing aids or medical devices without professional guidance.

UAE Regulatory & Data Privacy Adherence

Your data is protected under UAE Federal Law. All genetic and personal information is processed 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 safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License No. 1143 and operates under ISO 9001:2015 certification (INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name Connexin 30 (GJB6) Mutation Detection Test
Price (AED) 1100 AED
Turnaround Time 10 working days
Sample Type / Matrix Whole blood (4 mL, EDTA Lavender top tube)
Methodology Used PCR amplification & Sanger sequencing
ICD-10-CM Code H90.3 (Sensorineural hearing loss, bilateral)
LOINC Code 21663-7 (GJB6 gene mutation analysis in Blood)
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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