Test Price
1,100 AED✅ Home Collection Available
Connexin 30 (GJB6) Mutation Detection Test in UAE | 1100 AED | 2026 DHA Guidelines
تحليل طفرة كونكسين 30 (GJB6) في الإمارات | 1100 درهم | معتمد من هيئة الصحة بدبي
🧬 Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Sanger Sequencing & PCR).
🏥 Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
🩺 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.
الملخص التنفيذي
يُقدم اختبار الكشف عن طفرة جين كونكسين 30 (GJB6) بدقة تشخيصية تصل إلى 99.9% وفق معايير الآيزو 9001:2015، مع خدمة السحب المنزلي المتميزة عبر سلسلة تبريد معتمدة، ونقل العينات عبر فريق تمريض متنقل VIP. يشمل الاختبار توجيهاً سريرياً هاتفياً بعد ظهور النتائج، ودعماً مباشراً للتحقق من التأمين الصحي. جميع الإجراءات متوافقة تماماً مع المرسوم بقانون اتحادي رقم 41 لسنة 2024 بشأن حماية البيانات الشخصية وقانون دبي للصحة (CDS 2026) واشتراطات هيئة الصحة بدبي.
Clinical Overview
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. باختصار: الفحص الجيني يؤكد تشخيص الصمم الوراثي غير المتلازمي بدقة، مما يُمكّن من التدخل المبكر والإرشاد العائلي.
| Test Feature | Our Connexin 30 (GJB6) Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | Targeted Sanger sequencing & deletion/duplication analysis (100% coverage of GJB6 coding regions) | Broad exome with variable coverage; may miss deep intronic mutations |
| Method | ISO 9001:2015‑certified PCR & Sanger Sequencing | Next‑Generation Sequencing with confirmatory Sanger |
| Turnaround Time | 10 working days | 4–8 weeks |
| Specificity for Deafness | Direct pathogenic variant detection in DFNB1 locus | Incidental findings common |
| Price | 1100 AED | ~3500 AED |
Physician Insight & Safety Protocol
“Hearing loss can isolate a child and distress a family. With a precise genetic diagnosis from this test, we can end the diagnostic odyssey and tailor early interventions—such as cochlear implants or sign language support—much sooner. Please remember, no single laboratory result replaces a full audiological and neurological evaluation; always correlate with clinical findings.”
— Dr. PRABHAKAR REDDY, DHA License 61713011, Consultant Neurologist & Genetic Medicine
⚠️ Safety & Exclusion Criteria
- 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.
Pre‑Test Information & 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: Paid hospital‑grade phlebotomy available 8 AM – 11 PM, with ISO‑certified cold‑chain transport. 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.
إجابة مختصرة: تحليل طفرة جين كونكسين 30 (GJB6) هو اختبار جيني يستهدف الطفرات المسؤولة عن الصمم الوراثي غير المتلازمي، ويُنصح به للأطفال فاقدي السمع مجهولي السبب ولأسرهم.
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.
الجواب: يتم سحب عينة دم عبر أنبوب EDTA بواسطة ممرض مرخص من هيئة الصحة بدبي، وتُنقل مبردة إلى المختبر المعتمد وفق الآيزو. تظهر النتيجة خلال 10 أيام عمل، مع استشارة هاتفية لتفسيرها.
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.
التفسير: النتيجة الإيجابية تؤكد سبباً جينياً وتُوجّه نحو زراعة القوقعة والإرشاد العائلي. النتيجة السلبية لا تستبعد أسباباً جينية أخرى، وقد يوصي الطبيب بفحوصات أوسع.
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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