Test Price
2,800 AED✅ Home Collection Available
DES Gene (Desmin) Neurogenic Scapuloperoneal Syndrome, Kaeser Type, Genetic Test
Executive Summary & Core Metrics
- Price: 2,800 AED
- Turnaround Time: 3–4 Weeks
- Sample Type: Whole Blood (EDTA) or Dried Blood Spot (FTA card)
- Methodology: Next-Generation Sequencing (NGS) with CNV calling, >1000x depth
- Accuracy: 99.9% diagnostic sensitivity for DES variants
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM–11 PM)
- Clinical Support: Complimentary post-test telephonic clinical correlation session with a genetic counsellor
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The DES Gene NGS Test detects pathogenic variants in the desmin gene responsible for neurogenic scapuloperoneal syndrome, Kaeser type—a rare hereditary myopathy. This test empowers neurologists, medical geneticists, and genetic counselors with definitive molecular confirmation, guiding prognosis, family screening, and management. Whole blood or dried blood spot is required. A mandatory pre-test genetic counseling session is included.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Methodology | NGS with CNV calling, >1000x depth | Single-gene Sanger sequencing (limited exon coverage) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Diagnostic Yield | 99.9% sensitivity for DES variants | ~85% (may miss large deletions/duplications) |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA: 9294403): "Molecular findings must always be correlated with electromyography, muscle biopsy, and family history. A positive DES variant confirms genetic predisposition but does not replace a thorough neurological evaluation. I reassure patients that this test is a powerful step toward personalized care, not a standalone verdict."
Advisory Notice
Medication Advisory
Do not discontinue or adjust any prescribed medication without consulting your treating physician. This genetic test does not influence acute treatment; maintain current therapy until advised otherwise.
Exclusion Criteria & Urgent Red Flags
- Exclusion: Individuals without clinical suspicion of scapuloperoneal syndrome or a positive family history; minors lacking legal guardian consent under Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Patients who have not undergone mandatory pre-test genetic counselling and pedigree documentation.
- Red Flag – Seek Emergency Care: Sudden severe muscle weakness, respiratory difficulty, or cardiac arrhythmias. These symptoms require immediate hospital evaluation, regardless of test status.
Patient FAQ & Clinical Guidance
1. What does the DES gene test detect in scapuloperoneal syndrome, Kaeser type?
This test uses Next-Generation Sequencing to detect pathogenic DES gene mutations responsible for neurogenic scapuloperoneal syndrome, Kaeser type. It sequences the entire desmin gene to identify single nucleotide variants, small insertions/deletions, and copy number changes. Results classify variants as pathogenic, likely pathogenic, or uncertain significance, enabling precise diagnosis and familial risk assessment. Interpretation must be performed by a clinical geneticist or neurologist in context of your symptoms.
2. How should I prepare for the DES gene test and what sample is needed?
We accept whole blood in EDTA tubes, extracted DNA, or a few drops on an FTA card. No fasting is required. Your pre-test genetic counseling appointment is mandatory—our certified genetic counselor will draw a family pedigree and explain the implications. The home collection team brings all necessary cold-chain equipment. Avoid heparin contamination if providing DNA.
3. How confidential are my genetic results under UAE law and what happens after testing?
Your genetic data is protected by 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. Results are stored on secure ISO-certified servers and used solely for diagnostic purposes. After the report is issued, you receive a telephonic clinical guidance session with a neurologist or geneticist. We never share data without explicit consent.
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling comply with the 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. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 15189:2012 and ISO 9001:2015 accredited (INT/EGQ/2509DA/3139) and operates under DHA/MOHAP licensing. Your genetic information is encrypted, access-controlled, and never shared without your explicit written consent.
Clinical & Logistical Metadata
| Test Name | DES Gene (Desmin) Neurogenic Scapuloperoneal Syndrome, Kaeser Type – NGS Sequencing |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV calling |
| ICD-10-CM Code | G71.0 (Muscular Dystrophy) |
| LOINC Code | 21636-6 (Desmin gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians