Test Price
2,800 AED✅ Home Collection Available
DYM Gene Smith-McCort Dysplasia (SMC) Genetic Test – Confirmed NGS Molecular Diagnosis
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity achieved through ISO‑accredited Next‑Generation Sequencing (NGS) for comprehensive DYM gene analysis.
- Investment in Health: AED 2,800 – Comprehensive NGS analysis with standard VIP home collection and post-test genetic counselling included.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection. Available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post-test result interpretation with a DHA-licensed Consultant Medical Geneticist.
- Insurance & Billing: Direct billing verification & appointment scheduling via WhatsApp on +971 54 548 8731.
Test Overview & Methodology
The DYM gene provides instructions for producing the protein dymeclin, which plays a critical role in cartilage and bone development. Pathogenic variants in DYM lead to Smith-McCort dysplasia (SMC), an autosomal recessive skeletal dysplasia characterized by short stature, joint laxity, coarse facial features, and specific dermatological and immunological findings. This single-gene NGS test sequences the entire coding region of DYM, enabling the detection of single nucleotide variants (SNVs), small insertions/deletions (indels), and copy number variations (CNVs) to deliver a definitive molecular diagnosis for informed clinical management and family counselling.
| Feature | Our Test (DYM NGS) | Sanger Sequencing (Alternative) |
|---|---|---|
| Methodology | NGS (Next‑Generation Sequencing) | Single‑amplicon Sanger |
| Variant Detection | Full gene coverage – small indels, SNVs, copy‑number changes | Only targeted exonic regions; low sensitivity for large rearrangements |
| Turnaround Time | 3–4 weeks | 4–8 weeks |
Physician Insight & Safety Protocols
“Molecular genetics provides a powerful lens, but every result must be interpreted through the patient’s full clinical picture. I encourage you to pair this test with a thorough physical exam and family history – only then can we transform a DNA report into the most compassionate care plan.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Clinical Safety Notice
⚠️ Important Clinical Notice
Do not discontinue any prescribed medication or alter your therapeutic regimen without consulting your treating physician. This genetic test provides diagnostic information; it does not replace ongoing clinical management or emergency interventions.
Safety Exclusion & Emergency Red Flags
Exclusion Criteria & Emergency Protocol
- Exclusion Criteria: Severe coagulopathy (INR > 3.0), active skin infection at the venipuncture site, or inability to provide valid informed consent.
- Emergency Warning: If you develop acute respiratory distress, new‑onset seizures, or severe allergic reaction after sampling, seek immediate emergency care (call 998) – these events are extremely rare and require urgent medical evaluation.
Patient FAQ & Clinical Guidance
1. What is the DYM gene Smith-McCort dysplasia test, and how does it work?
This test targets the DYM gene via NGS to diagnose Smith-McCort dysplasia, a skeletal dysplasia. It analyses the entire coding sequence for pathogenic mutations using a blood, extracted DNA, or FTA card sample. The result identifies the exact genetic alteration, confirming the clinical diagnosis and guiding family screening and pregnancy planning.
2. Who should consider getting this genetic test?
Adults and children presenting with skeletal dysplasia, skin lesions, and recurrent infections should undergo testing. Suspicion arises from short stature, joint laxity, coarse facial features, and immune deficiencies. Prenatal testing is also indicated if both parents are known carriers of a DYM mutation.
3. How long does it take to receive the test results?
The laboratory provides final results within 3 to 4 weeks of receiving the DNA sample. This includes the time needed for DNA extraction, library preparation, sequencing, bioinformatics analysis, and clinical interpretation. A pre‑test genetic counselling session is mandatory to document the family pedigree and ensure appropriate ordering.
4. Is pre-test genetic counselling mandatory?
Yes, a pre-test genetic counselling session is mandatory before undergoing the analysis. This session helps construct the family pedigree, interpret inheritance patterns, and provide appropriate psychosocial support. The session can be scheduled via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected under 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 protocols strictly adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates under DHA Facility License Number 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | DYM Gene Smith-McCort Dysplasia Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | Q77.2 |
| LOINC Code | 94091-7 |
| DHA Facility License & Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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