Test Price
2,800 AED✅ Home Collection Available
SMAD4 Gene Myhre Syndrome NGS Genetic Test | 2,800 AED | DHA-Licensed Genomics
Executive Summary & Core Metrics
The SMAD4 Gene Myhre Syndrome NGS Test employs next‑generation sequencing on the Illumina platform to achieve >99.9% diagnostic sensitivity for pathogenic variants in the SMAD4 gene. This ISO 9001:2015 certified assay provides molecular confirmation of Myhre syndrome (MIM 139210). The test includes VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection (daily 8 AM–11 PM) and a complimentary post‑test telephonic genetic counselling session. Direct insurance billing verification is available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SMAD4 Gene Myhre Syndrome NGS Test is a comprehensive molecular diagnostic tool that uses next‑generation sequencing to analyze the entire SMAD4 gene, enabling precise identification of pathogenic variants linked to Myhre syndrome (MIM 139210). This assay provides full gene coverage including intronic and splice‑site regions, unlike traditional Sanger sequencing which only targets selected exons.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | >99.9% Sensitivity / 100% Specificity | ~85% Sensitivity, miss splice‑site variants |
| Methodology | Next‑Generation Sequencing (NGS) – Illumina Platform, full gene coverage | Sanger Sequencing – selected exons only |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
Physician Insight & Safety Protocols
“A molecular diagnosis of Myhre syndrome through SMAD4 sequencing provides clarity for families, but it must be integrated with multidisciplinary clinical assessments—including pediatric cardiology, audiology, and orthopedics. This test serves as a diagnostic confirmation; clinical management decisions should always involve the primary specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory: Do Not Discontinue Prescribed Medications
This genetic test is a diagnostic aid and does not replace ongoing medical management. Do not stop, alter, or delay any medications or therapies without explicit approval from your managing physician.
Exclusion Criteria & Emergency Red Flags
- Do not proceed with blood collection if the patient has an acute febrile illness or has received a blood transfusion within the last 4 weeks.
- ER Red Flags: If your child experiences severe respiratory distress, cyanosis, sudden hearing loss, or signs of increased intracranial pressure, seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. What is the SMAD4 Gene Myhre Syndrome NGS Test and how does it work?
This advanced genetic test sequences the entire SMAD4 gene to detect mutations causing Myhre syndrome with 99.9% accuracy. Using next‑generation sequencing on a blood or DNA sample, it identifies even rare variants that traditional methods might miss. The test is processed in our ISO 9001:2015 certified laboratory.
2. Who should consider taking this test in the UAE?
Children presenting with short stature, stiff joints, hearing loss, and characteristic facial features should consider this test. It is also indicated for individuals with a family history of Myhre syndrome or atypical connective tissue disorders. A referral from a pediatrician or geneticist is recommended.
3. How long does it take to receive results and what support is provided?
Results are available within 3 to 4 weeks. After results are released, our genetic counsellor will contact you for a telephonic session to interpret the findings and discuss next steps. We also coordinate with your paediatric specialist if needed.
4. Is home sample collection available and how is it handled?
Yes, we offer VIP mobile phlebotomy at your home with a temperature‑controlled cold‑chain system to ensure sample integrity. Collection is available daily from 8 AM to 11 PM. Alternatively, you may visit our facility in Dubai Healthcare City.
UAE Regulatory & Data Privacy Adherence
This test and laboratory operations are 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | SMAD4 Gene Myhre Syndrome NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Derived DNA |
| Methodology Used | Next‑Generation Sequencing (Illumina Platform), Full Gene Coverage |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 21636-6 (SMAD4 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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