Test Price
2,800 AEDโ Home Collection Available
SNRPN Gene Prader-Willi Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed Lab 1143
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Next-Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation by a Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SNRPN Gene NGS test is a high-definition molecular diagnostic assay designed to detect pathogenic variants, deletions, duplications, and methylation defects in the SNRPN gene associated with Prader-Willi syndrome (PWS). This complex neurogenetic disorder is characterized by neonatal hypotonia, developmental delays, hyperphagia, and intellectual disability. Utilizing advanced next-generation sequencing (NGS) technology, the test provides a definitive diagnosis with 99.9% analytical accuracy, enabling early, targeted multidisciplinary intervention.
Comprehensive genetic analysis is crucial for confirming clinical suspicion, guiding family counseling, and informing management strategies such as growth hormone therapy and behavioral support. Our methodology ensures full coverage of the SNRPN gene region, detecting single nucleotide variants (SNVs), copy number variants (CNVs), and uniparental disomy (UPD) in a single assay.
| Feature | Our Test (NGS) | Closest Alternative (Methylation MLPA) |
|---|---|---|
| Precision | 99.9% Analytical Sensitivity; detects SNVs, CNVs, UPD | Limited to 15q11-q13 deletion detection; misses point mutations & UPD |
| Method | Next-Generation Sequencing (Full SNRPN gene) | Methylation-specific Multiplex Ligation-dependent Probe Amplification |
| Turnaround Time | 3โ4 Weeks | 2โ3 Weeks |
| Price (AED) | 2,800 Insurance Pre-Approval Available |
1,800 โ 2,200 (Approx.) |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics specializing in neurogenetic disorders, I emphasize that definitive molecular confirmation of Prader-Willi syndrome through comprehensive SNRPN gene sequencing is pivotal for initiating early, targeted multidisciplinary interventions, including growth hormone therapy and behavioral support. Genetic results must always be contextualized within the full clinical phenotype and family pedigree. Patients and families should consult their managing physician before making any changes to prescribed therapies or interventions.โ
โ Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory & Clinical Safety Protocols
Exclusion Criteria & Pre-Test Requirements
- Exclusion Criteria: This test is not intended for asymptomatic individuals without clinical suspicion of Prader-Willi syndrome or a documented family history of the condition. It is a targeted diagnostic tool, not a population screening assay.
- ER Red Flags (Seek Immediate Pediatric Neurology Care): Severe neonatal hypotonia, failure to thrive progressing to rapid weight gain, unresponsiveness to stimuli, or sudden behavioral disturbances such as skin picking leading to infection.
- Pre-Test Requirement: A mandatory genetic counseling session is required to draw a detailed pedigree chart, assess familial risk, and obtain informed consent, in full compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Law No. 2 of 2019.
- Sample Collection Safety: Home collection is performed by a DHA-licensed phlebotomist using ISO-certified cold chain transport; mild discomfort at the venipuncture site is possible.
Patient FAQ & Clinical Guidance
1. What is the SNRPN gene test and why is it essential for Prader-Willi syndrome?
This next-generation sequencing test analyzes the SNRPN gene to confirm Prader-Willi syndrome with 99.9% accuracy. It is essential because a definitive molecular diagnosis allows for early, targeted multidisciplinary care planning, including growth hormone therapy, nutritional management, and behavioral interventions, significantly improving long-term outcomes.
2. How is the sample collected and what is the turnaround time?
A standard peripheral whole blood sample is collected via our VIP Mobile Phlebotomy service at your home, ensuring maximum convenience and safety. For patients with existing genetic material, extracted DNA samples are also accepted. The turnaround time for this comprehensive NGS analysis is 3โ4 weeks from the time the sample reaches our ISO-certified laboratory.
3. Is this test approved by UAE health authorities and covered by insurance?
Yes, our laboratory holds a valid DHA Facility License (No. 1143) and is ISO 9001:2015 accredited. We handle direct insurance verification and pre-approval processes to ensure transparency. The test fully complies with UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 regarding health data confidentiality.
UAE Regulatory & Data Privacy Adherence
- Data Protection: Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ Ensuring absolute patient data privacy and confidentiality.
- Health Data Governance: Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ Regulating the secure handling of electronic health records.
- Medical Liability: Federal Decree-Law No. 4 of 2016 on Medical Liability โ Governing clinical safety protocols and informed patient consent.
- Laboratory Accreditation: ISO 9001:2015 Certified Lab (Cert #: INT/EGQ/2509DA/3139) | DHA Facility License #: 1143.
- Clinical Codes: ICD-10-CM: Q87.1 (Prader-Willi Syndrome), Z13.79 (Genetic Screening), Z15.09 (Genetic Susceptibility). LOINC: 82939-0.
Clinical & Logistical Metadata
| Test Name | SNRPN Gene NGS Test (Prader-Willi Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Analysis |
| ICD-10-CM Code | Q87.1, Z13.79, Z15.09 |
| LOINC Code | 82939-0 |
| DHA Facility License & Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License #: 1143 |
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