Test Price
2,800 AEDโ Home Collection Available
L1CAM Gene Hydrocephalus with Aqueductal Stenosis & Congenital Intestinal Pseudo-Obstruction โ Genetic Test in UAE
Executive Summary & Core Metrics
Executive Summary:
This comprehensive genetic assay analyzes the L1CAM gene via next-generation sequencing (NGS) to detect pathogenic variants causing congenital hydrocephalus with aqueductal stenosis and intestinal pseudo-obstruction, fully DHA-licensed and aligned with international standards.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- 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 DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The L1CAM gene (X-linked) is critical for neural development; pathogenic variants cause a spectrum of congenital hydrocephalus with aqueductal stenosis and intestinal pseudo-obstruction. This Genetic Test sequences the entire coding region to identify disease-causing mutations, enabling definitive diagnosis, neurosurgical planning, and genetic counselling for affected families.
| Feature | Our Test (DHA-Approved) | Closest Alternative |
|---|---|---|
| Method | Next-Generation Sequencing (NGS) โ Full gene coverage | Sanger sequencing (single exon only) |
| Turnaround | 3โ4 Weeks | 6โ8 Weeks (if outsourced) |
| Sensitivity | >99.9% for point mutations & small indels | Limited by exon-specific primers |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) notes: โThis test provides critical genetic confirmation for conditions that often present in the neonatal period with rapid progression. While a positive result confirms the diagnosis, negative results in the presence of strong clinical findings should prompt consideration of additional genetic testing or a second-tier sequencing approach. Always correlate results with clinical imaging and family history.โ
Advisory Notice
This test is for diagnostic clarification and does not replace emergency medical management. Always follow your physician's prescribed treatment plan.
Exclusion Criteria & Red Flags
- Acute hydrocephalus requiring urgent neurosurgical intervention โ proceed to emergency care, do not wait for results.
- Patients on anticoagulants must inform the phlebotomist; home collection will be adjusted accordingly.
- For minors, genetic counselling and legal guardian consent are mandatory per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- If the patient exhibits signs of peritonitis, intestinal obstruction, or sepsis, seek immediate hospital admission.
Patient FAQ & Clinical Guidance
1. What does a positive L1CAM gene result mean?
A positive result identifies a disease-causing mutation in the L1CAM gene, confirming a diagnosis of X-linked hydrocephalus with aqueductal stenosis and/or congenital intestinal pseudo-obstruction; immediate multidisciplinary management, including neurosurgical evaluation, is recommended.
2. What does a negative result for the L1CAM gene indicate?
A negative result means no disease-causing mutation was detected in the tested gene, but it does not entirely exclude other genetic causes; your physician may recommend broader genetic testing or repeat imaging.
3. How should I prepare for the blood draw at home?
No fasting is required; simply hydrate well, wear loose clothing for easy access to a vein, and ensure a legal guardian is present if the patient is a minor as per UAE regulations.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Compliance Framework:
This service complies 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. Laboratory processes are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). For verification, contact +971 54 548 8731 (WhatsApp).
Clinical & Logistical Metadata
| Test Name | L1CAM Gene Hydrocephalus with Aqueductal Stenosis & Congenital Intestinal Pseudo-Obstruction โ Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral Venous Blood) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full gene coding region coverage |
| ICD-10-CM Code | Q03.0, Q43.8 |
| LOINC Code | 21790-1 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians