TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia Genetic Test
Test Price
2,800 AEDโ Home Collection Available
TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post-test result interpretation by a DHA-licensed clinical geneticist.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731. Most UAE policies accepted.
Test Overview & Methodology
The TIMM8A Genetic Test identifies pathogenic mutations responsible for Mohr-Tranebjaerg syndrome (deafness-dystonia-optic neuropathy syndrome), a rare X-linked neurodegenerative disorder characterized by progressive sensorineural hearing loss, visual impairment, dystonia, and dementia. This analysis employs next-generation sequencing to provide precise molecular diagnosis, enabling targeted symptom management and informed genetic counseling for affected families.
| Feature | Our Test (TIMM8A NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity, full gene coverage including deep intronic regions | ~95% sensitivity, exonic regions only; may miss splice variants |
| Methodology | Next Generation Sequencing (NGS) with CNV detection | Bidirectional Sanger sequencing, limited to known hotspots |
| Turnaround Time | 3 to 4 weeks | 6 to 8 weeks |
Physician Insight & Safety Protocols
โFamilies facing a potential diagnosis of Mohr-Tranebjaerg syndrome often navigate a complex journey of progressive symptoms across multiple generations. Molecular confirmation through comprehensive TIMM8A sequencing not only clarifies the clinical trajectory but also empowers at-risk relatives to make informed reproductive and surveillance decisions. I strongly recommend reviewing results in conjunction with both a clinical geneticist and a neurologist to coordinate multidisciplinary care.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Medication Notice
โ ๏ธ Clinical Notice: Do not discontinue or alter any prescribed medication without consulting your doctor. This test does not replace ongoing neurological care.
Safety Exclusion Criteria & Emergency Red Flags
- Children under 18 years without documented parental consent (as per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Inability to provide informed consent due to cognitive impairment unless a legal guardian is present.
- Acute febrile illness or severe uncompensated medical condition that would interfere with safe sample collection.
ER Red Flags: If you experience sudden deterioration of neurological status, new-onset seizures, or thoughts of self-harm following test disclosure, proceed to the nearest emergency department without delay.
Patient FAQ & Clinical Guidance
1. What is the TIMM8A gene test used for?
The TIMM8A gene test diagnoses Mohr-Tranebjaerg syndrome, a rare X-linked disorder causing progressive deafness, dystonia, optic atrophy, and dementia. It sequences the entire coding region to detect point mutations, small insertions/deletions, and copy number changes. Results direct symptomatic management (e.g., cochlear implants, botulinum toxin for dystonia) and genetic counseling.
2. How is the sample collected and how long do results take?
A simple blood draw or cheek swab is collected at your home by our licensed phlebotomist; results are ready in 3 to 4 weeks. A single drop of blood on an FTA card is also accepted if distance prevents standard collection. All samples are transported under validated cold-chain conditions to our ISO-certified laboratory.
3. Will my insurance cover the TIMM8A genetic test in the UAE?
Most UAE insurers cover diagnostic genetic testing when medically necessary; we verify your coverage instantly via WhatsApp at +971 54 548 8731. Our team provides pre-authorization support and direct billing to all major networks including DHA, MOHAP, and private payers. Self-pay patients can settle the 2,800 AED fee via credit card, bank transfer, or cash on collection.
UAE Regulatory & Data Privacy Adherence
All genetic data is 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. Patient consent, sample handling, and disclosure of results follow the standards set by Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic information is encrypted, access-controlled, and never shared without explicit written authorization.
Clinical & Logistical Metadata
| Test Name | TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral Blood or Buccal Swab; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) with CNV Detection |
| ICD-10-CM Code | G31.89 |
| LOINC Code | 81323-0 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
โ๏ธ Medical Disclaimer
This test information is for educational purposes only and does not constitute medical advice. Results should be interpreted by a qualified healthcare professional. Always consult with a DHA-licensed physician for diagnosis and treatment decisions.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians