Test Price
2,800 AEDโ Home Collection Available
CHD7 Gene CHARGE Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed Facility
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 in result interpretation.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CHD7 Gene CHARGE Syndrome NGS Test provides comprehensive sequencing of the entire CHD7 coding region to identify pathogenic variants causing CHARGE syndromeโa complex multisystem disorder. This advanced genetic analysis supports precise diagnosis in infants and children presenting with dysmorphic features, congenital anomalies, and sensorineural deficits, enabling tailored clinical management and family planning.
| Feature | Our CHD7 NGS Test | Sanger Sequencing (Alternative) |
|---|---|---|
| Diagnostic Precision | >99.9% analytical sensitivity for single nucleotide variants and small indels | ~95% sensitivity, may miss exonic deletions |
| Methodology | Next Generation Sequencing (NGS) โ full gene coverage | Capillary electrophoresis โ targeted region analysis |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
Physician Insight & Safety Protocols
โA comprehensive phenotype evaluation remains the cornerstone of CHARGE syndrome diagnosis. The CHD7 NGS result must be correlated with clinical findings by a board-certified clinical geneticist; it is not a standalone diagnostic tool. Parents should discuss implications with their paediatrician before making treatment decisions.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Medication Advisory
โ ๏ธ Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion Criteria & Emergency Red Flags
- Recent blood transfusion (within 30 days) or bone marrow transplant โ may compromise DNA integrity.
- Active haematological malignancy or severe leukopenia interfering with nucleated cell yield.
- Inability to provide informed consent or lack of legal guardian for minors (compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Seek urgent medical attention if the child develops apnoea, cyanosis, severe feeding difficulties, or cardiac arrhythmia irrespective of genetic test status.
Patient FAQ & Clinical Guidance
1. What is the CHD7 Gene CHARGE Syndrome NGS Test?
The CHD7 Genetic Test identifies pathogenic mutations in the CHD7 gene causing CHARGE syndrome, a complex congenital disorder with multi-system involvement.
2. Who should consider this test?
This test is recommended for infants and children presenting with clinical features of CHARGE syndrome, including coloboma, heart defects, or choanal atresia, and for parents undergoing carrier testing.
3. How is the test performed and what is the turnaround time?
A simple blood draw or buccal swab is collected via our VIP mobile phlebotomy service; DNA is extracted and analysed by NGS, with results provided in 3โ4 weeks.
UAE Regulatory & Data Privacy Adherence
Our laboratory is fully compliant 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 sample handling and genetic data processing adhere to ISO 9001:2015 standards (Cert: INT/EGQ/2509DA/3139). DHA Facility License No: 1143. Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | CHD7 Gene CHARGE Syndrome NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Buccal Swab or Peripheral Blood |
| Methodology Used | Next Generation Sequencing (NGS) โ Full Gene Coverage |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 96369-9 |
| DHA Facility License & Laboratory Address | License No: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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