Test Price
2,800 AED✅ Home Collection Available
TPM2 Gene Nemaline Myopathy Type 4 Genetic Test in UAE | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: Paid Hospital‑Grade Home Collection via ISO Certified Cold‑Chain Home Collection and VIP Mobile Phlebotomy (daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance in Result Interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This comprehensive Next‑Generation Sequencing (NGS) test analyses the entire TPM2 gene to detect pathogenic variants linked to nemaline myopathy type 4, a congenital neuromuscular disorder characterised by muscle weakness and hypotonia. It is the definitive genetic test for diagnosing this rare condition.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Methodology | Comprehensive NGS (full gene + CNV) – CE‑marked, ISO 9001:2015 | Single‑gene Sanger sequencing (limited to small variants) |
| Turnaround Time | 3–4 Weeks (Rapid reporting available) | 6–8 Weeks |
| Sample Types | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | Whole Blood only |
| UAE Home Collection | 8 AM – 11 PM, 7 days a week | Limited or no service |
| Post‑Test Clinical Call | Included with board‑certified genetic counsellor | Not included |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“This NGS test delivers high analytical sensitivity for TPM2 mutations. However, a negative result does not entirely exclude nemaline myopathy type 4 when clinical features strongly point to the diagnosis. Integration with muscle biopsy, electromyography, and family history remains essential for comprehensive evaluation.”
Advisory: Medication Safety
Do not discontinue any prescribed medication or alter your treatment plan without consulting your treating physician. Genetic test results must be interpreted within the full clinical context.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients with acute bleeding disorders or those on high‑dose anticoagulants may require a specialist‑supervised blood draw. Neonates: minimum 250 µL whole blood on FTA card required.
- Emergency Red Flags: If you or your child develop sudden severe muscle weakness, swallowing difficulties, respiratory distress, or cardiac arrhythmia, seek immediate emergency medical attention – do not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the TPM2 gene nemaline myopathy type 4 NGS test?
Quick Answer: It is a genetic test that sequences the entire TPM2 gene to identify mutations causing nemaline myopathy type 4, a congenital muscle disorder. The test uses Next‑Generation Sequencing to detect even rare variants, helping confirm a clinical diagnosis, guide treatment, and inform family planning.
2. Who should consider this genetic test?
Quick Answer: Individuals with clinical features like infantile hypotonia, muscle weakness, delayed motor milestones, or a family history of nemaline myopathy should consider testing. It is also recommended for asymptomatic siblings when a family mutation is known, and for genetic counselling prior to pregnancy.
3. What do my test results mean?
Quick Answer: A positive result confirms the diagnosis and enables targeted management; a negative result reduces the likelihood of TPM2‑related nemaline myopathy but does not exclude other genetic causes. All results include a detailed clinical interpretation by our geneticists, and a post‑test teleconsultation is provided to answer your questions.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance
This test is performed in accordance 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 genetic data is encrypted and stored within UAE borders. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Booking & Support: Call or WhatsApp +971 54 548 8731 (Home Collection 8 AM – 11 PM). Facility Licence: 1143. ISO 9001:2015 Cert: INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | TPM2 Gene Nemaline Myopathy Type 4 NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (Rapid reporting available) |
| Sample Type / Matrix | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available (8 AM – 11 PM daily) |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV analysis, CE-marked, ISO 9001:2015 |
| ICD-10-CM Code | G71.23, G71.2, G71.0 |
| LOINC Code | 83113-2 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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