Test Price
2,800 AED✅ Home Collection Available
NSD1 Gene Sequencing Test for Sotos Syndrome Type 1 | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 15189 accredited next-generation sequencing processing.
Premium Logistics: Hospital-grade home collection with ISO-certified cold-chain transport and VIP mobile phlebotomy available daily 8 AM – 11 PM.
Clinical Guidance: Complimentary telephonic post-test genetic counselling provided for all result types.
Insurance: Direct billing verification available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The NSD1 gene sequencing test utilizes next-generation sequencing (NGS) on the Illumina platform to detect pathogenic and likely pathogenic variants in the NSD1 gene associated with Sotos syndrome type 1. Comprehensive coverage of all coding exons and flanking intronic regions enables definitive molecular diagnosis, guiding multidisciplinary management and family genetic counselling. The assay achieves 99.9% diagnostic sensitivity and specificity for single-nucleotide variants and small insertions or deletions.
| Feature | Our Test (NSD1 NGS) | Standard Sanger Sequencing |
|---|---|---|
| Precision | Full gene sequencing (99.9% sensitivity) | Targeted mutation analysis only |
| Methodology | Next-Generation Sequencing (Illumina) | Sanger capillary electrophoresis |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Price | 2,800 AED | ~3,500 AED |
Physician Insight & Safety Protocols
As a consultant medical geneticist, I confirm that comprehensive NSD1 gene sequencing is the gold-standard molecular approach for confirming Sotos syndrome type 1. However, a definitive clinical diagnosis must integrate the sequencing result with dysmorphology evaluation, growth parameters, and developmental assessment. A variant of uncertain significance may require segregation analysis and further functional studies.
Medication Advisory
Do not alter or discontinue any prescribed therapy, including growth hormone or anticonvulsant regimens, without prior consultation with your treating specialist. Genetic test results may influence management decisions, but all treatment changes must be supervised by a qualified physician.
Safety Exclusion Criteria & Red Flags
- Patients with severe bleeding disorders or those receiving anticoagulant therapy require pre-analytical evaluation; inform our phlebotomy team before sample collection.
- Individuals with extreme needle phobia or inability to provide a venous blood sample may be offered an alternative FTA card blood-spot collection method.
- If you develop severe swelling, expanding hematoma, or signs of infection at the collection site, seek immediate care at the nearest emergency department.
- Post-test genetic counselling is mandatory for any positive or uncertain result; do not make medical decisions solely based on the raw genetic report.
Patient FAQ & Clinical Guidance
1. What is the NSD1 gene sequencing test and why is it important?
This test identifies pathogenic mutations in the NSD1 gene with 99.9% diagnostic sensitivity, confirming Sotos syndrome type 1 diagnosis. It guides multidisciplinary care involving genetics, endocrinology, neurology, and developmental paediatrics, and enables informed reproductive genetic counselling for at-risk family members.
2. How should I prepare for the test?
No special dietary restrictions, medication adjustments, or fasting are required. You simply provide a venous whole blood sample (3–5 mL in EDTA), extracted genomic DNA, or a capillary blood-spot on an FTA card. A pre-test genetic counselling session is strongly recommended to document family history and obtain informed written consent.
3. How long does it take to receive results and what do they mean?
Results are issued within 3 to 4 weeks from sample receipt. A certified genetic counsellor or consultant medical geneticist will explain the report, which may indicate a pathogenic variant (positive), no disease-causing variant (negative), or a variant of uncertain significance requiring further family segregation studies.
4. Is home sample collection available for this test?
Yes. VIP mobile phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM across all UAE emirates. Our trained phlebotomists use paediatric-friendly techniques for children when required. Alternatively, you may visit our Dubai Healthcare City facility for sample submission.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic and personal data are processed in full compliance 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. Genomic data are encrypted, access-controlled, and retained only for the period required for clinical care and statutory reporting.
Clinical Safety & Consent: Patient safety and informed consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Pre-test genetic counselling includes discussion of potential findings, implications for family members, and the patient's right to decline specific secondary findings.
Accreditation: DNA Labs UAE holds DHA facility license number 1143 and operates under ISO 15189 accredited processes for molecular genetic testing.
Clinical & Logistical Metadata
| Test Name | NSD1 Gene Sequencing (Sotos Syndrome Type 1) – NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card Blood Spot; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM – 11 PM |
| Methodology Used | Next-Generation Sequencing (Illumina) – Full Coding Exons & Flanking Intronic Regions |
| ICD-10-CM Code | Q87.3 |
| LOINC Code | 90529-3 |
| 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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