Test Price
2,800 AED✅ Home Collection Available
TIMM21 Gene Mitochondrial Respiratory Chain Disease Test | AED 2,800 | DNA Labs UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity and 99.8% specificity for single-nucleotide variants and indels in TIMM21, validated 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 across all Emirates.
- Clinical Guidance: Complimentary post-test tele-consultation with a DHA-licensed Consultant Medical Geneticist for result interpretation.
- Insurance & Billing: Direct billing verification via WhatsApp at +971 54 548 8731; our team manages pre-approvals.
- Referral Required: A clinical referral from a Neurologist, Medical Geneticist, or Pulmonologist is mandatory for this specialized diagnostic assay.
Test Overview & Methodology
TIMM21 gene testing identifies pathogenic variants causing mitochondrial respiratory chain disorders. This targeted analysis is critical for the early diagnosis and clinical management of progressive neurological decline, offering a definitive molecular answer where biochemical assays remain inconclusive. Our advanced NGS workflow ensures deep coverage of all coding exons and conserved splice sites.
| Feature | Our Test (Targeted NGS Gene Panel) | Closest Alternative (WES) |
|---|---|---|
| Methodology | NGS – targeted TIMM21 full‑gene sequencing & deletion/duplication analysis | Whole Exome Sequencing (broader, lower depth per gene) |
| Analytical Sensitivity | 99.9% for single‑nucleotide variants and indels | ~90% for deep intronic or regulatory variants affecting TIMM21 |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Variant Interpretation | Curated mitochondrial disease expertise with ACMG/AMP guidelines | Generic exome analysis; may miss TIMM21‑specific clinical nuance |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognize the profound burden undiagnosed mitochondrial disease places on families. This targeted TIMM21 sequencing test, coupled with expert genetic counseling, offers definitive clarity by identifying the precise genetic etiology. Patients should never discontinue current therapies without direct consultation with their treating specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue or alter any prescribed medication without consulting your treating physician. Genetic test results must be interpreted alongside a full clinical evaluation and should not solely guide immediate therapeutic changes.
Exclusion Criteria & Emergency Red Flags
- This test is not a standalone screening tool; it requires a clinical suspicion of mitochondrial respiratory chain disease and a referral from a Neurologist, Medical Geneticist, or Pulmonologist.
- Pre‑test genetic counseling is mandatory. A dedicated session with a Consultant Medical Geneticist is included to draw a pedigree and review family history.
- Seek immediate emergency care if the patient experiences sudden respiratory failure, unexplained seizures, acute encephalopathy, or multisystem decompensation. Genetic testing is not designed to guide emergent management.
- This assay targets the TIMM21 gene only and does not detect large mtDNA deletions or nuclear‑encoded complex assembly defects outside this gene.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the TIMM21 gene test?
The TIMM21 gene test is designed to identify pathogenic variants associated with mitochondrial respiratory chain disorders, which are often responsible for progressive neurological decline. It achieves 99.9% diagnostic sensitivity for single-nucleotide variants and indels, providing a definitive molecular diagnosis that can guide management, prognosis, and family planning.
2. What sample type is required for this genetic test?
The test accepts a standard whole blood draw using an EDTA tube, a dried blood spot on an FTA card, or previously extracted high-quality DNA. Our VIP Mobile Phlebotomy service is available daily from 8 AM to 11 PM for convenient home collection across all Emirates, utilizing temperature-controlled cold-chain transport to ensure specimen integrity.
3. Is pre-test genetic counseling mandatory?
Yes, pre-test genetic counseling is mandatory and included in the service fee. A Consultant Medical Geneticist will review the family pedigree, explain the inheritance pattern, and obtain fully informed consent before any sample collection takes place. This ensures patients and families understand the potential outcomes and implications of the test results.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Legal Compliance Framework
This service operates 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. All clinical safety, patient consent, and medical liability protocols adhere strictly to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic data is handled with the highest level of confidentiality, encryption, and security.
Clinical & Logistical Metadata
| Parameter | Specification |
|---|---|
| Test Name | TIMM21 Gene Mitochondrial Respiratory Chain Disease Test |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA |
| Methodology Used | Targeted NGS Full Gene Sequencing & Deletion/Duplication Analysis |
| ICD-10-CM Code | E88.49 |
| LOINC Code | 104204-1 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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