Test Price
2,800 AED✅ Home Collection Available
TTN Gene Sequencing for Tibial Muscular Dystrophy (Tardive) – Dubai Healthcare City
Executive Summary & Core Metrics
Test Overview & Methodology
The TTN gene encodes titin, the largest human protein essential for sarcomere integrity and passive muscle elasticity. Pathogenic variants in the C-terminal region of TTN cause Tibial Muscular Dystrophy (Tardive) — a late-onset, autosomal dominant distal myopathy predominantly affecting the anterior tibialis muscles, with onset typically after age 35. This NGS-based genetic test delivers definitive molecular confirmation by sequencing all coding exons and splice-site regions of the TTN gene, enabling accurate diagnosis, family cascade screening, and personalized management planning.
| Feature | Our Test — TTN Gene NGS | Closest Alternative — Whole Exome Sequencing | Single-Gene PCR (Limited) |
|---|---|---|---|
| Precision | 99.9% — Full TTN coverage ± flanking intronic regions | ~95% — TTN included but depth may be suboptimal | ~70% — Only targeted known variants |
| Methodology | NGS (Illumina® Platform) + Sanger Confirmation | NGS — Broad exome capture | Allele-Specific PCR |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks | 2 Weeks |
| Clinical Utility | Definitive diagnosis + family cascade screening | Incidental findings may complicate interpretation | Misses novel/private mutations |
| Price (AED) | 2,800 | 4,500–6,000 | 1,500 |
Physician Insight & Safety Protocols
Clinical Perspective from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403): "Tibial muscular dystrophy caused by TTN variants presents subtly — early foot drop and anterior leg asymmetry are often mistaken for lumbar radiculopathy or peroneal neuropathy. A negative TTN NGS result does not exclude all myopathies, and clinical correlation with electromyography and muscle imaging remains paramount. I strongly encourage patients to review their results during a dedicated post-test consultation before initiating any lifestyle or therapeutic modifications."
Important Pre-Test Advisory
This genetic test is for diagnostic confirmation and family risk assessment. It does not replace acute clinical management. Do not discontinue, adjust, or alter any prescribed medication — including corticosteroids, immunosuppressants, or myotonolytic agents — without explicit consultation with your treating physician.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Physician Clearance):
- Acute rhabdomyolysis or CK > 5× ULN within 72 hours
- Recent blood transfusion (< 2 weeks) — may confound germline DNA analysis
- Bone marrow transplant recipient — donor DNA interference risk
- Uncontrolled seizure disorder requiring urgent neurological stabilization
- Minors (< 18 years) without guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability
Emergency Red Flags — Seek Immediate Medical Attention:
- Sudden loss of ambulation or acute bilateral leg weakness
- Respiratory distress or dysphagia with aspiration risk
- Cardiac symptoms: palpitations, syncope, or unexplained dyspnea (TTN cardiomyopathy overlap)
- Severe muscle pain with dark urine (suggestive of rhabdomyolysis)
Patient FAQ & Clinical Guidance
1. What does the TTN gene NGS test detect, and who qualifies for it?
The TTN gene NGS test identifies pathogenic single-nucleotide variants, small insertions/deletions, and splice-site mutations in all coding exons of the titin gene, confirming tibial muscular dystrophy with 99.9% sensitivity. Qualified candidates include adults presenting with unexplained bilateral foot drop, selective anterior tibialis atrophy, or a family history of late-onset distal myopathy. A pre-test genetic counselling session with pedigree documentation is mandatory. Individuals under 18 require additional guardian consent in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
2. How long does the TTN gene test result take, and what are the post-result steps?
The result for the TTN gene sequencing test takes three to four weeks from the date of sample receipt at our accredited ISO 9001:2015 laboratory. Upon result availability, a complimentary telephonic genetic counselling session is scheduled to discuss the report with a medical genetics specialist, along with recommendations for cascade family screening of at-risk first-degree relatives. Referral to a neurologist for clinical follow-up is also coordinated.
3. Can a negative TTN NGS result completely rule out tibial muscular dystrophy?
A negative TTN NGS result significantly reduces the likelihood of tibial muscular dystrophy but cannot exclude deep intronic variants, regulatory region mutations, or phenocopies from other myopathy-associated genes. In such cases, your neurologist may recommend broader neuromuscular gene panels, whole exome sequencing, or muscle MRI with T1-weighted Dixon imaging to further characterize the myopathic pattern. Clinical follow-up remains essential, as electromyography and muscle biopsy findings retain independent diagnostic value.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is classified as sensitive personal data and processed exclusively on encrypted, UAE-sovereign servers.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health data exchange and genomic data handling comply with national cybersecurity standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Informed consent for genetic testing is obtained prior to sample collection; minors require guardian authorization.
- ISO 9001:2015 Certified: Facility License No. 1143 | ISO Cert: INT/EGQ/2509DA/3139 — audited annually by DHA/MOHAP.
- Data Storage: Genomic data stored on encrypted, UAE-sovereign servers; not shared with third parties without explicit written consent.
- Sample Acceptance: Whole Blood (EDTA), Extracted DNA, or One-Drop Blood on FTA Card — all processed under ISO Cold-Chain Protocol.
Clinical & Logistical Metadata
| Test Name | TTN Gene Sequencing for Tibial Muscular Dystrophy (Tardive) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (Illumina® Platform) with Sanger confirmation |
| ICD-10-CM Code | G71.0 (Tibial Muscular Dystrophy) |
| LOINC Code | 82151-2 (Titin gene targeted mutation analysis in Blood) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
DHA Facility License: 1143 | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Support: +971 54 548 8731 | This page is reviewed by Lina Osama Zaki Quteineh (DHA: 9294403). Content complies with Federal Decree-Law No. 45 of 2021 and Federal Law No. 2 of 2019. All information is for educational purposes and does not replace individualized medical advice.
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