Also known as: Snyder-Robinson Syndrome Genetic Test, SMS Gene Sequencing
Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3 to 4 Weeks
SMS Gene (Snyder-Robinson Syndrome) NGS Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Genetic Counselling and result interpretation by Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Service Summary:
- Targeted NGS sequencing of the entire SMS gene coding region and splice sites.
- Ready in 3 to 4 weeks with comprehensive clinical interpretation.
- Pre-test genetic counselling and signed informed consent are mandatory.
- DHA-licensed laboratory (License #1143) located in Dubai Healthcare City.
Test Overview & Methodology
This advanced genetic test analyzes the SMS gene (spermine synthase) to diagnose Snyder-Robinson syndrome, an X-linked disorder characterized by intellectual disability, hypotonia, dysmorphic features, and seizures. Pathogenic variants in the SMS gene disrupt polyamine metabolism, impairing neurological development primarily in affected males. The test utilizes Next Generation Sequencing (NGS) to achieve full coverage of the SMS gene coding region and splice junctions with 99.9% diagnostic sensitivity and specificity.
| Feature | SMS Gene Targeted NGS Test | Whole Exome Sequencing (Alternative) |
|---|---|---|
| Precision | 99.9% sensitivity and specificity for SMS mutations | Moderate coverage for SMS; potential incidental findings |
| Methodology | Next Generation Sequencing (Full SMS Gene Sequencing) | Exome-wide NGS with lower depth for individual genes |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (longer interpretation time) |
| Regulatory Alignment | DHA/MOHAP Compliant, ISO 9001:2015 | Variable accreditation between laboratories |
Physician Insight & Safety Protocols
Ms. Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: “This targeted SMS gene test provides families with a definitive genetic diagnosis for Snyder-Robinson syndrome, eliminating years of diagnostic uncertainty. As a consultant medical geneticist, I emphasize that accurate molecular confirmation enables tailored management plans, appropriate surveillance, and informed family planning. The test is performed under rigorous quality standards, and our team provides comprehensive post-test genetic counselling to support patients and families throughout their diagnostic journey.”
Patient Safety Advisory
- Medication Safety: Do not discontinue any prescribed medication without prior consultation with your physician.
- Exclusion Criteria: Patients with a known bleeding disorder or contraindication to venipuncture should inform the medical team prior to sample collection.
- Emergency Red Flags: Seek immediate medical attention if you experience sudden neurological deterioration, loss of consciousness, or new-onset seizures after sample collection. These symptoms reflect the underlying condition rather than the test procedure.
Informed Consent & Pre-Test Counselling Requirements
- Pre-test genetic counselling with a qualified genetic counsellor or clinical geneticist is mandatory before sample collection.
- A signed informed consent form must be obtained in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Sample collection is performed via standard venipuncture by trained phlebotomy personnel.
- Home collection is available daily from 8 AM to 11 PM via VIP Mobile Phlebotomy with temperature-controlled cold-chain logistics.
Patient FAQ & Clinical Guidance
1. What is the SMS gene Snyder-Robinson syndrome NGS test?
This is a targeted Next Generation Sequencing (NGS) test that analyzes the SMS gene to detect pathogenic variants responsible for Snyder-Robinson syndrome. The assay sequences the entire coding region and splice junctions of the spermine synthase gene with high depth of coverage, enabling precise molecular diagnosis and carrier testing. Results are typically available within 3 to 4 weeks following sample receipt.
2. Who should consider this genetic test?
Males presenting with unexplained intellectual disability, hypotonia, seizures, and dysmorphic features, as well as individuals with a family history suggestive of X-linked intellectual disability. Carrier females seeking reproductive planning may also benefit from testing. Pre-test genetic counselling is mandatory to ensure informed decision-making and appropriate test selection.
3. How are results interpreted, and what are the next steps?
Results are classified as pathogenic, likely pathogenic, variant of uncertain significance (VUS), or no clinically relevant mutation detected. A pathogenic finding confirms the diagnosis of Snyder-Robinson syndrome and enables targeted management strategies. VUS results may require familial segregation studies to clarify clinical significance. A negative result does not exclude all genetic etiologies; further testing such as chromosomal microarray or exome sequencing may be recommended by the genetic counsellor.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
DNA Labs UAE operates in full compliance with all applicable UAE federal healthcare regulations. All genetic testing services adhere to the following legal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All patient genetic data is processed and stored in compliance with UAE data protection regulations, ensuring confidentiality and security of sensitive genomic information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records and telegenetics platforms meet the mandated ICT security and interoperability standards.
- DHA Licensing & Inspection: Our laboratory holds DHA Facility License Number 1143 and is subject to regular audits and quality assessments by the Dubai Health Authority.
- ISO 9001:2015 Certification: Our quality management system is certified to international standards, ensuring consistent service excellence.
Clinical & Logistical Metadata
| Test Name | SMS Gene (Snyder-Robinson Syndrome) NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) - Full Gene Sequencing |
| ICD-10-CM Code | E70.8, F70 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | 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
["Pre-test genetic counselling is mandatory.", "Signed informed consent form is required."]
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