Test Price
2,800 AED✅ Home Collection Available
Chromosome 15q11 Gene Analysis for Prader-Willi Syndrome (NGS) | 2800 AED | DHA Accredited
Executive Summary & Core Metrics
This advanced NGS-based assay delivers definitive molecular diagnosis of Prader-Willi syndrome by analyzing the 15q11.2-q13 region including deletions, uniparental disomy (UPD), and imprinting center defects. Clinical sensitivity exceeds 99.9% under ISO 9001:2015 certified workflows with oversight by DHA-licensed genetics specialists.
Test Overview & Methodology
The assay utilizes targeted next-generation sequencing (NGS) to interrogate the entire Prader-Willi critical region (PWCR) on chromosome 15q11.2. It concurrently detects copy-number variations (deletions/duplications), single-nucleotide variants, and methylation patterns to differentiate Prader-Willi syndrome from Angelman syndrome and other imprinting disorders.
| Feature | Our NGS Test | Standard MLPA |
|---|---|---|
| Detection Scope | Full imprinting center, SNVs, INDELs, UPD, deletions | Deletions and methylation only |
| Turnaround Time | 3 – 4 Weeks | 2 – 3 Weeks |
| Sensitivity | >99.9% | ~95% |
| Price | 2800 AED | Often not available standalone |
Physician Insight & Safety Protocols
“A negative NGS result does not fully exclude Prader-Willi syndrome in neonates with classic hypotonia and feeding difficulties. We always correlate molecular findings with detailed clinical, endocrine, and neurological evaluation. Genetic counseling and informed consent are mandatory per DHA standards.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed therapies (e.g., growth hormone, anticonvulsants) without direct consultation with your managing physician. This test provides diagnostic clarification only and must not replace ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Patients currently receiving cytotoxic chemotherapy (may compromise DNA quality).
- Hemodynamically unstable neonates unable to tolerate venipuncture.
- Severe coagulopathy not correctable prior to blood draw.
- Emergency Red Flags: Respiratory compromise, uncontrolled seizures, or suspected sepsis – call 998 immediately; do not delay emergency care for genetic testing.
Patient FAQ & Clinical Guidance
1. What does a positive 15q11 NGS result mean for my child?
A positive result confirms Prader-Willi syndrome with high certainty, enabling early initiation of growth hormone therapy, feeding support, and multidisciplinary follow-up to prevent obesity and improve long-term outcomes. Genetic counseling is provided to discuss inheritance patterns and family planning.
2. How is the sample collected and what preparation is needed?
A trained pediatric phlebotomist collects 1–2 ml of whole blood at your home between 8 AM and 11 PM. Per DHA policy, prior genetic counseling and a three-generation pedigree chart are required. No special preparation is needed; please continue all medications as prescribed.
3. Is this test covered by UAE health insurance?
Many UAE insurers cover genetic testing for Prader-Willi syndrome when ordered by a neurologist or clinical geneticist. Our team performs direct insurance verification via WhatsApp +971 54 548 8731 and will inform you of any copay or authorization requirements before testing.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genomic and personal data encrypted, processed exclusively within UAE borders, and never shared without explicit consent.
- Federal Law No. 2 of 2019 Concerning the Use of ICT in Health: Secure electronic health records and telehealth protocols for result delivery and post-test counseling.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Clear informed consent procedures, mandatory pre-test genetic counseling, and adherence to standard of care.
- ISO 9001:2015 Certification (INT/EGQ/2509DA/3139): Quality-managed laboratory processes with regular audits.
- DHA Facility License No. 1143: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | Chromosome 15q11 Gene Analysis for Prader-Willi Syndrome (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks (from sample receipt) |
| Sample Type / Matrix | Whole Blood (Peripheral) – 1–2 ml in EDTA tube or FTA card |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with CNV and methylation analysis |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 49637-7 |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians