Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 weeks
TPM3 Gene Nemaline Myopathy Type 1 Genetic Test in UAE โ 2800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: >99.9% sensitivity for pathogenic variants in the TPM3 gene via full-gene NGS and CNV analysis.
- Premium Logistics: VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily 8 AM โ 11 PM.
- Medical Guidance: Post-test telephone consultation with a Consultant Medical Geneticist for result interpretation.
- Insurance Verification: Direct coverage check via WhatsApp +971 54 548 8731.
- Turnaround Time: 3โ4 weeks from sample reception.
- Price: 2800 AED (includes pre-test genetic counselling and report).
Test Overview & Methodology
The TPM3 gene Nemaline Myopathy Type 1 genetic test employs next-generation sequencing (NGS) to detect single nucleotide variants, small insertions/deletions, and copy number variations in the TPM3 gene. This test provides a definitive molecular diagnosis for Nemaline Myopathy Type 1 (NEM1), a congenital neuromuscular disorder characterized by muscle weakness and respiratory complications. A mandatory pre-test genetic counselling session, including a pedigree chart, is required before sample collection.
| Feature | Our Test (DHA-Accredited) | Closest Alternative |
|---|---|---|
| Methodology | Full gene NGS + CNV analysis | Targeted mutation panel or single-site testing |
| Diagnostic Yield | >99.9% sensitivity for all variant types | Limited to known hotspots, may miss novel variants |
| Turnaround Time | 3โ4 Weeks | 10โ14 Days |
| Pre-Test Requirement | Mandatory genetic counselling & pedigree chart | Often minimal or no counselling |
Physician Insight & Safety Protocols
โConfirmation of a TPM3 pathogenic variant provides a clear genetic diagnosis, guides prognosis, and enables informed family planning. However, a negative result does not rule out other genetic causes; all findings must be correlated with a detailed neuromuscular examination and interpreted within the context of the family history. Always maintain prescribed therapies unless explicitly adjusted by your neurologist.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory โ Pre-Test Genetic Counselling
Required Before Sample Collection:
- Informed consent document signed by patient (or legal guardian if minor).
- Completion of a pre-test genetic counselling session (included in the test cost).
- Submission of a three-generation pedigree chart to assist variant interpretation.
- Do not discontinue any prescribed medication without consulting your physician.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Unable to provide informed consent; medically unstable for venipuncture; missing mandatory pre-test genetic counselling.
- Minors: Legal guardian consent strictly required under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flags: If you experience sudden respiratory distress, severe muscle weakness causing inability to walk or swallow, seek immediate emergency care. This test is not intended for acute diagnosis.
Patient FAQ & Clinical Guidance
1. What is the TPM3 gene test used for?
This DNA test analyzes the TPM3 gene to detect mutations causing nemaline myopathy type 1, a congenital muscle disorder. It confirms the molecular diagnosis, guides prognosis, and facilitates family counselling.
2. How is the sample collected and what are the requirements?
A blood sample (whole blood, extracted DNA, or FTA card) is collected via our VIP mobile phlebotomy service at your home between 8 AM and 11 PM. A pre-test genetic counselling session is mandatory before collection.
3. How long do results take and what do they mean?
Results are typically available within 3 to 4 weeks. A positive result confirms a genetic diagnosis of nemaline myopathy type 1. A negative result does not exclude all genetic causes; your geneticist will discuss implications during a post-test consultation.
4. What happens if my insurance does not cover the test?
We offer a direct insurance verification service via WhatsApp (+971 54 548 8731). If coverage is declined, the test is available at a self-pay price of 2800 AED, which includes all counselling and logistics.
UAE Regulatory & Data Privacy Adherence
Compliance Framework: This test is conducted in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Federal Decree-Law No. 4 of 2016 on Medical Liability (patient consent and safety standards).
- DHA Facility License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
All genetic data are encrypted and stored within secure, access-controlled servers. No raw data is shared with third parties without your explicit written consent.
Clinical & Logistical Metadata
| Test Name | TPM3 Gene Sequencing (Nemaline Myopathy Type 1) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card (peripheral blood). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available. |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV analysis |
| ICD-10-CM Code | G71.2 (Congenital myopathies) |
| LOINC Code | 94400-5 (TPM3 gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 โ DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["Mandatory pre-test genetic counselling", "Submission of a three-generation pedigree chart", "Do not discontinue prescribed medication without consulting your physician"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians