Also known as: SELENON Gene Sequencing (Congenital Myopathy with Fiber-Type Disproportion)
Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 Weeks
SELENON Gene Myopathy with Fiber-Type Disproportion Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- โAccuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- โPremium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- โClinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a DHA-licensed genetic counsellor.
- โInsurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Core Metrics:
- Price: 2,800 AED
- Turnaround Time: 3โ4 Weeks
- Sample Type: Whole Blood (EDTA Tube) or Dried Blood Spot
- Methodology: Next Generation Sequencing (NGS)
- Genetic Counselling: Mandatory Pre- & Post-Test
Test Overview & Methodology
This Genetic Test analyzes the entire SELENON (SEPN1) gene to identify pathogenic variants responsible for congenital myopathy with fiber-type disproportion and related rigid spine muscular dystrophy. It offers a definitive molecular diagnosis with a turnaround time of 3 to 4 weeks, enabling targeted clinical management and genetic counselling.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Single-Gene) |
|---|---|---|
| Precision | Full gene coverage; detects SNVs, indels, CNVs | Limited to known hotspots; misses deep intronic variants |
| Methodology | Illumina NGS with bioinformatic validation | Sanger sequencing |
| Turnaround | 3โ4 weeks | 6โ8 weeks |
| Cost | 2,800 AED | ~3,500 AED |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics specialist, I understand the uncertainty that comes with a possible genetic myopathy. This test is a critical piece of the diagnostic puzzle. Results must be correlated with your clinical history and family findings. Your genetic counsellor and I are here to guide you through every step of interpretation and care.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Card
Medication Warning
Do not discontinue or adjust any prescribed medication, including muscle relaxants or respiratory support, without explicit instruction from your treating physician. Premature changes can severely worsen muscle function.
Exclusion Card
Important Safety Notice
- Exclusion Criteria: This test is not intended for asymptomatic minors without a confirmed family history; pediatric testing requires parental consent as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Patient Preparation: No fasting required. A genetic counselling session is mandatory prior to sample collection to draw a pedigree chart.
- Emergency Red Flags: If you or your child develop sudden breathing difficulties, severe choking, or loss of ambulation, go to the nearest emergency department immediately.
- Data Privacy: All genetic data is protected under UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and stored in ISO 27001-certified servers.
Patient FAQ & Clinical Guidance
1. What does a positive SELENON gene test mean for my muscle weakness?
A positive result identifies a disease-causing variant in the SELENON gene, confirming the molecular diagnosis of a congenital myopathy with fiber-type disproportion. This finding explains your muscle weakness, guides prognosis, and helps your neurologist tailor a management plan that may include respiratory monitoring, physiotherapy, and orthopedic care. Clinical correlation with electromyography and muscle biopsy is essential; the test does not replace a full neurological evaluation.
2. How is the sample collected and what is the turnaround time?
A small blood sample (2โ3 mL in EDTA tube) or a dried blood spot from a finger prick is collected by our DHA-licensed phlebotomist at your home or office between 8 AM and 11 PM, using cold-chain transport. The NGS sequencing and bioinformatic analysis are completed within 3 to 4 weeks. Results are released only after a second independent review by a medical geneticist to ensure 99.9% accuracy.
3. Is genetic counselling included and why is it necessary?
Yes, a mandatory preโtest genetic counselling session is included. During this session, a certified genetic counsellor will construct a threeโgeneration pedigree chart, explain inheritance patterns (autosomal recessive), discuss the implications for family members, and obtain informed consent. Postโtest counselling is also provided to help you understand your results and reproductive options, fully compliant with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
- Licensed by DHA under facility license 1143. Testing performed in an ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139).
- Fully compliant with UAE 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 consent and clinical safety governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Home collection available daily 8 AM โ 11 PM. WhatsApp support: +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | SELENON Gene Sequencing (Congenital Myopathy with Fiber-Type Disproportion) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA Tube) or Dried Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) โ Illumina Platform |
| ICD-10-CM Code | G71.23 (Congenital myopathy with fiber-type disproportion) |
| LOINC Code | 93821-7 (SELENON gene mutation analysis in blood by sequencing) |
| DHA Facility License & Laboratory Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["No fasting required", "Mandatory pre-test genetic counselling session required", "Parental consent required for pediatric testing"]
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