Test Price
2,800 AED✅ Home Collection Available
NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 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 clinical guidance for result interpretation from a consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Corporate Oversight: This test is clinically supervised by Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403).
Test Overview & Methodology
The NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test is a definitive molecular diagnostic tool that analyzes the NIPBL gene for pathogenic variants associated with Cornelia de Lange syndrome (CdLS). Using Next-Generation Sequencing (NGS) with high coverage and Sanger confirmation, this test ensures >99.9% diagnostic sensitivity essential for accurate clinical management, covering dermatological, osteological, and immunological manifestations linked to the syndrome.
| Feature | Our NIPBL NGS Test | Closest Alternative (Single-Gene Sanger Sequencing) |
|---|---|---|
| Precision (Sensitivity) | >99.9% (NGS with deletion/duplication analysis) | ~95% (misses large deletions, GC-rich regions) |
| Methodology | Next-Generation Sequencing (NGS) + Sanger confirmation | Sanger sequencing only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Sample Types | Whole Blood, Extracted DNA, FTA Card Blood Spot | Whole Blood only |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I deeply understand the emotional journey families face when seeking a diagnosis for Cornelia de Lange syndrome. The NIPBL gene test provides critical molecular clarity, enabling informed genetic counseling and personalized management. It is imperative that results are interpreted within the complete clinical picture and discussed with a qualified genetic specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication without consulting your treating physician. The genetic test results may inform future medication adjustments, but no changes should be made independently.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Minors must have legal guardian consent. Patients who have received a blood transfusion within the last 2 weeks may affect DNA quality; reschedule collection accordingly.
- Emergency Red Flags: If you experience excessive bleeding, hematoma formation, or signs of infection at the blood draw site, seek immediate medical attention.
- Pre-Test Requirement: A pre-test genetic counseling session is mandatory. During this session, a pedigree chart of family members affected by NIPBL gene variants will be drawn, and potential outcomes will be discussed.
Patient FAQ & Clinical Guidance
1. What is the NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test?
This advanced NGS test identifies pathogenic mutations in the NIPBL gene to confirm a diagnosis of Cornelia de Lange syndrome type 1 with 99.9% sensitivity. The test can be performed on a blood sample, extracted DNA, or a simple FTA card blood spot, making it convenient and non-invasive for young children.
2. Who should consider this test?
Individuals showing clinical features of CdLS such as distinctive facial dysmorphism, growth retardation, hirsutism, or upper limb anomalies should undergo NIPBL gene testing for definitive molecular diagnosis. Dermatologists, clinical geneticists, and pediatricians often recommend this test when syndromic signs are present.
3. How are samples collected and what is the turnaround time?
A certified phlebotomist collects a blood sample during VIP mobile phlebotomy from 8 AM to 11 PM, or you can provide a pre-extracted DNA sample. Results are returned in 3–4 weeks via a secure digital report. The cold-chain logistics maintain specimen integrity from your doorstep to our ISO 9001:2015 accredited laboratory.
UAE Regulatory & Data Privacy Adherence
This service operates 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. All genetic data is handled with strict confidentiality, and patient consent is obtained in accordance with legal requirements. Our laboratory is ISO 9001:2015 accredited (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) + Sanger Confirmation |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 92821-0 |
| 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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