Test Price
2,800 AED✅ Home Collection Available
SLC5A7 Gene Analysis (Congenital Myasthenic Syndrome Type 20, Presynaptic) – Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Our ISO 9001:2015 certified genetic test delivers 99.9% diagnostic sensitivity for SLC5A7‑related Congenital Myasthenic Syndrome Type 20. We provide end‑to‑end premium logistics, including VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (available daily from 8 AM to 11 PM), followed by telephonic post‑test clinical guidance. Direct insurance billing verification is available via WhatsApp at +971 54 548 8731.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic post‑test counselling for result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing (NGS) test examines the entire coding region and intron‑exon boundaries of the SLC5A7 gene to identify pathogenic variants responsible for Presynaptic Congenital Myasthenic Syndrome Type 20. This neuromuscular disorder presents in neonates or early childhood with severe hypotonia, apnea, and feeding difficulties. Early molecular diagnosis guides targeted management and improves prognosis.
| Feature | Our Test (SLC5A7 NGS) | Closest Alternative (Single‑gene Sanger) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity | ~99% (misses large deletions/duplications) |
| Methodology | NGS with CNV calling | Sanger sequencing, no CNV analysis |
| Turnaround | 3–4 weeks | 2–4 weeks (limited scope) |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I emphasise that a positive SLC5A7 mutation confirms a presynaptic CMS subtype that demands careful, individualised care; negative results do not exclude other CMS genes, and clinical correlation remains essential. Please discuss any concerns with your treating physician before altering any therapy."
— Lina Osama Zaki Quteineh, DHA Registration ID: 9294403
Advisory: Medication & Care Precautions
⚠ DO NOT discontinue or modify any prescribed medication (e.g., anticholinesterases, respiratory support) without explicit approval from your consultant. This genetic test is not a replacement for emergency medical care.
Exclusion Criteria & Emergency Red Flags
- This DNA test is not validated for asymptomatic individuals with no clinical or family history of congenital myasthenia.
- Home collection is unsuitable for patients with active acute infection or haemodynamic instability – these individuals must be stabilised in a medical facility first.
- Seek immediate emergency care (call 998) if the patient experiences sudden respiratory distress, cyanosis, or loss of consciousness.
- All blood draws on minors require explicit written consent from a parent or legal guardian, in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Results must be interpreted exclusively by a DHA‑licensed specialist; self‑interpretation may lead to mismanagement.
Patient FAQ & Clinical Guidance
1. What is the SLC5A7 gene test for congenital myasthenic syndrome type 20?
It identifies genetic variants in the SLC5A7 gene that cause presynaptic congenital myasthenic syndrome type 20, aiding accurate diagnosis. This targeted NGS panel reads the entire gene sequence to detect point mutations, small indels, and copy number changes, providing a molecular confirmation essential for tailored treatment and genetic counselling.
2. How is the performed and what sample is required?
A single blood draw, extracted DNA, or one drop of blood on an FTA card is all that is needed. Our phlebotomists use a painless technique for newborns and infants, and the sample is transported in ISO‑certified cold‑chain conditions to preserve DNA integrity.
3. How long until I receive my results and how are they interpreted?
Results are delivered within 3 to 4 weeks and include a comprehensive clinical interpretation report. Our DHA‑licensed genetic counsellor will walk you through the findings, explaining the variant’s significance, recurrence risks, and recommended follow‑up, ensuring you fully understand the implications.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Security: This test is fully compliant 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 data and genetic results are encrypted, access‑controlled, and processed in accordance with UAE health data governance standards.
Medical Liability & Informed Consent: In line with Federal Decree‑Law No. 4 of 2016 on Medical Liability, written informed consent is obtained prior to sample collection, covering the nature of the genetic test, potential outcomes, and data handling.
Accreditation: DNA Labs UAE is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | SLC5A7 Gene Analysis (Congenital Myasthenic Syndrome Type 20, Presynaptic) – Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (3–5 mL in EDTA tube), extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV calling |
| ICD-10-CM Code | G70.2 |
| LOINC Code | 81328-4 |
| DHA Facility License & Laboratory Address Invariants | License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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