Test Price
2,800 AED✅ Home Collection Available
GFPT1 Gene Congenital Myasthenic Syndrome with Tubular Aggregates Type 1 (CMS1B) Genetic Test in the UAE | 2,800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Certified Processing with rigorous variant confirmation.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic result interpretation by our Consultant Medical Genetics specialist with full pedigree correlation.
- Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
- Regulatory Compliance: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning health data confidentiality.
Test Overview & Methodology
The GFPT1 NGS test identifies pathogenic variants in the GFPT1 gene, enabling definitive molecular diagnosis of congenital myasthenic syndrome with tubular aggregates (CMS1B) and guiding tailored neurology interventions. Full gene sequencing by next-generation technology detects single nucleotide variants, small insertions and deletions, and copy number alterations across all coding exons and flanking intronic regions.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Hotspot) |
|---|---|---|
| Method | Next‑Generation Sequencing (full gene) | Sanger sequencing of select exons |
| Diagnostic Sensitivity | 99.9% (detects all variant types) | ~70% (misses deep intronic and copy-number variants) |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) notes: “A GFPT1 genetic result must always be correlated with clinical phenotype and repetitive nerve stimulation studies; a variant of uncertain significance should never be used in isolation to alter management. I encourage families to seek pre‑ and post‑test genetic counselling to fully understand the implications of the findings and to discuss reproductive options.”
Medication Advisory
⚠️ Medication Advisory
Do not alter or cease any prescribed therapy including acetylcholinesterase inhibitors, immunosuppressants, or respiratory support without direct consultation with your treating neurologist. Abrupt withdrawal may precipitate a myasthenic crisis or respiratory failure requiring emergency intervention.
Exclusion Criteria & Emergency Red Flags
- Exclusion for Home Collection: Active febrile illness or known coagulopathy; collection deferred until medically stable.
- Do Not Proceed Without: A completed requisition and signed informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flags – Seek Immediate Medical Attention: Sudden dysphagia, dyspnoea at rest, or rapid progression of limb weakness.
Patient FAQ & Clinical Guidance
1. What is GFPT1 gene testing and who should consider it?
GFPT1 gene testing is a comprehensive DNA analysis that detects pathogenic variants in the GFPT1 gene, recommended for individuals with suspected congenital myasthenic syndrome presenting with fatigable weakness and tubular aggregates on muscle biopsy. It is also indicated for family members of an affected proband for carrier testing and reproductive planning.
2. How is the test performed and what is the turnaround time?
A blood sample or extracted DNA is collected by a certified phlebotomist using standard venipuncture or an FTA card. The NGS analysis is completed within 3 to 4 weeks, and the final report includes variant classification per ACMG guidelines with interpretive commentary from our Consultant Medical Genetics.
3. Does health insurance in the UAE cover this genetic test?
Most UAE health insurers cover GFPT1 testing when ordered by a neurologist or medical geneticist for confirmed clinical suspicion. Our team verifies coverage directly via WhatsApp and assists with prior authorization forms.
4. What pre-test counselling is required?
A genetic counselling session is mandatory before sample collection to draw a detailed pedigree chart, discuss inheritance patterns (autosomal recessive), and obtain informed consent. Our genetic counsellor is available for in-person or telehealth consultation.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE federal law. DNA Labs UAE complies fully 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, access-controlled, and never shared with third parties without explicit patient consent. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | GFPT1 Gene Congenital Myasthenic Syndrome with Tubular Aggregates Type 1 (CMS1B) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA, or FTA Card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene coding regions and flanking intronic boundaries |
| ICD-10-CM Code | G70.2 – Congenital myasthenic syndrome |
| LOINC Code | 81479-4 – Congenital myasthenia gravis associated gene sequencing panel |
| DHA Facility License & Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab Branding: DNA Labs UAE |
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