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Test Price

2,800 AED

โœ… Home Collection Available

CDH23 Gene Deafness, Autosomal Recessive Type 12 (DFNB12) Genetic Test in UAE | 2,800 AED

Executive Summary & Core Metrics

This Next-Generation Sequencing (NGS) test delivers full-gene analysis of CDH23 to confirm autosomal recessive non-syndromic hearing loss DFNB12 with diagnostic sensitivity exceeding 99.9%. Accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139), the result directly guides cochlear implant candidacy, carrier screening, and family planning decisions.

  • Diagnostic Sensitivity: 99.9% via ISO-accredited NGS with Sanger confirmation.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ€“ 11 PM).
  • Clinical Guidance: Post-test telephonic consultation by DHA-licensed genetics specialists.
  • Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This advanced molecular assay performs complete sequencing of the CDH23 gene, including all coding exons, splice junctions, and deep intronic regions. Variant detection is executed on the Illumina NovaSeq platform with orthogonal Sanger confirmation for all clinically reportable findings. The test provides definitive molecular diagnosis for DFNB12, distinguishes it from other hearing loss subtypes, and supports premarital and preconception carrier screening.

Feature Our Test (NGS Full Gene Sequencing) Closest Alternative (Targeted Sanger Sequencing)
Precision Covers all coding exons, splice sites & deep intronic variants โ€“ >95% analytical sensitivity Targeted hotspot mutations only; misses rare/novel variants
Methodology Next-Generation Sequencing (Illumina NovaSeq) with Sanger confirmation Sanger sequencing of limited fragments
Turnaround Time 3โ€“4 weeks 4โ€“6 weeks
Clinical Utility Diagnosis, carrier screening, premarital counselling Limited to previously described mutations in specific populations
UAE Compliance Fully compliant with Federal Decree-Law No. 4 of 2016 on Medical Liability and DHA genetic testing regulations May require additional sequencing to meet DHA standards

Physician Insight & Safety Protocols

โ€œA pathogenic CDH23 variant confirms DFNB12 but does not independently dictate all therapeutic decisions. Findings must be correlated with pure-tone audiometry, family history, and clinical presentation. A normal sequencing result does not exclude other genetic or acquired hearing loss etiologies. Comprehensive pre- and post-test genetic counselling is essential for informed decision-making.โ€ โ€“ Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Clinical Advisory Notice

Do not discontinue prescribed medications such as corticosteroids or antivirals without consulting your physician. This genetic test is not a substitute for acute medical evaluation or emergency care.

Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: Patients with febrile illness (temperature >38ยฐC), recent blood transfusion (within 3 weeks), or high-dose immunosuppressive therapy may yield compromised DNA quality. Re-schedule collection after recovery.
  • ER Red Flags: Sudden onset (โ‰ค72 hours) sensorineural hearing loss, acute mastoiditis symptoms (pain, swelling, fever), or severe vertigo with neurological signs โ€“ seek immediate ENT emergency care, do not wait for genetic test results.
  • Pediatric/Minor Consent: In accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, all minors require documented parental or guardian consent. Contact our team for the mandatory consent form.

Patient FAQ & Clinical Guidance

1. What exactly does the CDH23 NGS test detect?

It detects pathogenic variants across the entire CDH23 gene using Next-Generation Sequencing, confirming autosomal recessive deafness type 12 (DFNB12) with >95% variant coverage across all coding exons, splice sites, and deep intronic regions.

2. How should I prepare for the blood collection?

No fasting is required. Stay well-hydrated and provide a peripheral whole blood sample in an EDTA tube or an FTA card spot during our scheduled home visit. Our phlebotomist follows strict ISO cold-chain protocols.

3. What if my result confirms a CDH23 mutation?

A positive result enables early intervention such as cochlear implantation candidacy, tailored family genetic counselling, and informed reproductive planning. Our DHA-licensed genetics team provides immediate telephonic support to interpret results and coordinate next steps.

4. Can this test determine if I am a carrier?

Yes. The test identifies heterozygous carrier status for autosomal recessive CDH23 variants, which is essential for premarital screening and preconception risk assessment. Carrier results are reported with clear guidance for partner testing where indicated.

5. How long does it take to receive results?

The standard turnaround time is 3 to 4 weeks from sample receipt at the laboratory. This accounts for full NGS sequencing, bioinformatics analysis, Sanger confirmation of reportable variants, and clinical review by our consultant medical geneticist.

UAE Regulatory & Data Privacy Adherence

Data Privacy & Security: All genetic data is processed and stored 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. Patient information is encrypted, access-controlled, and never shared without explicit consent.

Clinical Safety & Consent: This test adheres to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety, informed consent protocols, and clinical accountability across all stages of sample collection, analysis, and reporting.

DHA Oversight: The laboratory operates under DHA Facility License Number 1143 and follows all Dubai Health Authority guidelines for genetic testing, including mandatory pre- and post-test genetic counselling.

Clinical & Logistical Metadata

Test Name CDH23 Gene Deafness, Autosomal Recessive Type 12 (DFNB12) Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3โ€“4 Weeks
Sample Type / Matrix Peripheral Whole Blood (EDTA Tube) or FTA Card Spot
Methodology Used Next-Generation Sequencing (Illumina NovaSeq) with Sanger Confirmation
ICD-10-CM Code H90.3
LOINC Code 81247-9
DHA Facility License & Laboratory Address Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DHA License: 1143 | Corporate Lab Branding: DNA Labs UAE

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