Test Price
2,800 AEDโ Home Collection Available
SCN4A Gene Potassium-Aggravated Myotonia Genetic Test
Executive Summary & Core Metrics
This advanced genetic test detects pathogenic variants in the SCN4A gene associated with potassium-aggravated myotonia, a sodium channelopathy. Delivered with 99.9% diagnostic sensitivity via ISO 9001:2015 certified NGS, we provide hospital-grade home collection (ISO-certified cold-chain) and VIP mobile phlebotomy across the UAE. Our DHA-licensed clinical team offers telephonic post-test guidance for result interpretation and direct insurance billing verification via WhatsApp +971 54 548 8731.
Price: 2,800 AED | Turnaround: 3โ4 weeks (standard) / 2 weeks (expedited) | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Test Overview & Methodology
The SCN4A gene test identifies mutations causing potassium-aggravated myotonia, a hereditary muscle stiffness disorder aggravated by potassium intake. Our NGS methodology covers the entire coding region with high-depth coverage, ensuring detection of single nucleotide variants, small indels, and copy number variations.
| Feature | Our Test (SCN4A NGS) | Closest Alternative (Single-gene Sanger) |
|---|---|---|
| Precision | 99.9% analytical sensitivity, full gene sequencing + CNV detection | ~95% sensitivity, point mutations only, no CNV detection |
| Methodology | Next Generation Sequencing (Illumina NovaSeq X Plus) with ACMG 2026 interpretation | Sanger sequencing (limited to targeted exons) |
| Turnaround Time | 3โ4 Weeks (standard) / 2 Weeks (expedited) | 6โ8 Weeks |
| Clinical Report | DHA-compliant, with mandatory genetic counseling included | Basic variant list, no genetic counseling |
Physician Insight & Safety Protocols
โAs a consultant in medical genetics, I confirm that SCN4A genetic testing provides a definitive molecular diagnosis for potassium-aggravated myotonia. However, results should always be correlated with clinical examination and electromyographic findings. A negative test in a patient with strong clinical suspicion does not exclude the condition and may warrant evaluation for other myotonic disorders.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory & Pre-Test Precautions
Do not discontinue any prescribed medication without consulting your physician. This test requires a valid referral. Patients may need to avoid potassium-rich foods or supplements 24 hours prior to blood collection if instructed by the referring doctor. A mandatory pre-test genetic counseling session is required to review family history and obtain informed consent.
Exclusion Criteria & Emergency Red Flags
- Acute muscle weakness or paralysis โ seek immediate emergency care.
- Severe cardiac arrhythmia history โ contraindicated without cardiology clearance.
- Pregnancy โ requires special pre-test counseling and adapted sample handling.
- Age under 18 without legal guardian consent.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of this test for potassium-aggravated myotonia?
With 99.9% analytical sensitivity for single nucleotide variants and copy number changes, our NGS test identifies over 98% of pathogenic SCN4A mutations linked to potassium-aggravated myotonia (e.g., missense variants p.I693T, p.T1313M).
2. How long does it take to receive results, and is home sample collection available?
Standard reporting time is 3โ4 weeks; expedited processing is available within 2 weeks for urgent clinical scenarios. Our ISO-certified cold-chain home collection service covers all UAE emirates from 8 AM to 11 PM, with VIP mobile phlebotomy for premium convenience.
3. Is genetic counseling included, and how is insurance handled?
A mandatory pre-test genetic counseling session is included to review family history and explain implications. We verify insurance coverage directly via WhatsApp (+971 54 548 8731) before sample collection; most major UAE insurers cover diagnostic genetic testing for neurological indications.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance 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. Patient safety and informed consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is processed locally within the UAE under stringent confidentiality protocols with ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | SCN4A Gene Potassium-Aggravated Myotonia Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (standard) / 2 Weeks (expedited) |
| Sample Type / Matrix | Peripheral whole blood (VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM) |
| Methodology Used | Next Generation Sequencing (Illumina NovaSeq X Plus) with full gene coverage and CNV detection |
| ICD-10-CM Code | G71.19 (Other specified myotonic disorders) |
| LOINC Code | 81306-2 (SCN4A gene mutation analysis) |
| DHA Facility License & Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians