Test Price
2,800 AEDโ Home Collection Available
NKX2-5 Gene Sequencing for Atrial Septal Defect with AV Conduction Defects โ Genetic Test in the UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Excellence Guaranteed: Comprehensive sequencing of the NKX2-5 homeobox transcription factor gene using Next-Generation Sequencing (NGS) technology to detect pathogenic variants associated with atrial septal defect (ASD) and atrioventricular (AV) conduction defects. This test is performed at DNA Labs UAE, a DHA-licensed facility (License No. 1143) operating from Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Diagnostic sensitivity exceeds 99.9% with orthogonal Sanger confirmation of all clinically significant variants.
- โ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing with orthogonal Sanger confirmation of all clinically significant variants.
- โ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ available daily from 8 AM to 11 PM across all Emirates.
- โ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation provided by DHA-licensed Consultant Medical Genetics at no additional charge.
- โ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 โ confirm your coverage before scheduling.
Test Overview & Methodology
The NKX2-5 Gene NGS Test is a comprehensive molecular diagnostic assay that screens the full coding region of the NKX2-5 gene, including ยฑ20 bp intronic boundaries, for pathogenic variants implicated in atrial septal defect (ASD) and atrioventricular (AV) conduction defects. This test is indicated for pediatric and adult patients presenting with congenital heart disease, familial ASD, or unexplained AV block. DNA Labs UAE employs a validated NGS workflow with orthogonal Sanger confirmation for all clinically reportable variants, ensuring maximum diagnostic accuracy.
Comparative Analysis: NGS vs. Sanger Sequencing
| Feature | Our Test โ NGS Full Gene Sequencing | Closest Alternative โ Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) with full coding region coverage ยฑ20bp intronic boundaries | Sanger Sequencing โ exon-by-exon, limited multiplexing |
| Variant Detection | SNVs, indels, and copy number variants (CNVs) โ all exon-level resolution | SNVs and small indels only; CNV detection not feasible |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
| Diagnostic Yield | Superior โ captures deep intronic and regulatory variants | Moderate โ limited to known exon targets |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) & DHA-Licensed (No. 1143) | Variable โ may lack UAE-specific accreditation |
Physician Insight & Safety Protocols
A Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403):
"Pathogenic variants in NKX2-5 disrupt the homeobox transcription factor pathway essential for atrial septation and conduction system maturation. Each identified mutation must be correlated with echocardiographic findings and family pedigree analysis. Cascade screening of at-risk first-degree relatives provides the highest clinical utility for this autosomal dominant condition. I strongly recommend comprehensive pre-test genetic counselling to ensure patients understand the implications of both positive and negative results."
Medication Advisory
โ ๏ธ MEDICATION ADVISORY: Continue all prescribed cardiac medications โ including antiarrhythmics, beta-blockers, and anticoagulants โ unless explicitly directed otherwise by your treating cardiologist. This genetic test is a diagnostic adjunct and does not replace or modify existing clinical management protocols.
Exclusion Criteria & Safety Red Flags
The following conditions require careful evaluation before sample collection. Please disclose any to our clinical team prior to scheduling:
- Recent blood transfusion (within 4 weeks) โ may cause sample admixture and compromise DNA integrity.
- Active hematologic malignancy or bone marrow transplantation within the past 3 months โ donor-derived DNA may confound results.
- Current anticoagulation therapy at supratherapeutic levels โ evaluate bleeding risk prior to venipuncture.
- Known allergy to latex or standard phlebotomy antiseptics โ alternative materials must be arranged in advance.
๐จ Emergency Red Flags โ Seek Immediate Medical Attention
This genetic test is not an emergency diagnostic procedure. If the patient experiences syncope (fainting), severe palpitations, chest pain, cyanosis (bluish discoloration of lips or skin), or sudden shortness of breath, proceed directly to the nearest emergency department. Do not delay emergency care while awaiting genetic test results. These symptoms may indicate a life-threatening arrhythmia or hemodynamic compromise requiring urgent intervention.
Patient FAQ & Clinical Guidance
1. What does the NKX2-5 genetic test detect, and who should consider having it done?
Snippet Answer: The NKX2-5 NGS test detects pathogenic DNA variants in the NKX2-5 gene that cause atrial septal defect and atrioventricular conduction defects. It is recommended for anyone with a personal or family history of congenital heart disease, unexplained AV block, or familial ASD.
The test is particularly valuable for pediatric patients under evaluation by a paediatric cardiologist or neonatologist, adults with idiopathic AV block of unknown etiology, and asymptomatic family members of a confirmed NKX2-5 mutation carrier seeking cascade screening. A pre-test genetic counselling session โ mandated under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability โ is required to document informed consent and construct a detailed three-generation pedigree.
2. How is the sample collected, and what is the total cost including home collection?
Snippet Answer: Sample collection requires a simple blood draw or one drop of blood on a DNA FTA card performed by a DHA-licensed phlebotomist during a hospital-grade home visit, with the full test priced at 2,800 AED inclusive of cold-chain transport and telephonic post-test guidance.
Three sample types are accepted: whole blood collected in an EDTA tube (preferred for highest DNA yield), extracted DNA at a minimum concentration of 50 ng/ยตL, or a single drop of blood applied to a DNA FTA card (ideal for neonates and infants where venipuncture may be challenging). Our VIP mobile phlebotomy service operates daily from 8 AM to 11 PM across Dubai, Abu Dhabi, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah. All samples are transported under ISO-certified cold-chain conditions to maintain DNA integrity.
3. Can children undergo this test, and what legal consent is required in the UAE?
Snippet Answer: Yes, children and minors can undergo NKX2-5 genetic testing in the UAE, but written informed consent from a legal guardian is mandatory under Federal Decree-Law No. 4 of 2016 on Medical Liability, and all genomic data is protected under the UAE Personal Data Protection Law (PDPL).
Genetic testing of minors requires dual consent: the legal guardian must sign the informed consent form, and an assent discussion must be documented for children aged 12 and above who possess sufficient maturity to understand the nature of the test. All genomic data generated is stored on encrypted, DHA-compliant servers with strict access controls in full accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Patients and guardians retain the right to request data deletion after clinical reporting is complete. Results are released exclusively to the referring physician and the legal guardian; no third-party access is permitted without explicit written authorization.
UAE Regulatory & Data Privacy Adherence
- โ Federal Decree-Law No. 45 of 2021 (PDPL): Personal Data Protection Law โ genomic data encrypted, segregated, and protected against unauthorized access or disclosure.
- โ Federal Law No. 2 of 2019: Concerning the Use of Information and Communication Technology in Health Fields โ full compliance with health data security and interoperability standards.
- โ Federal Decree-Law No. 4 of 2016: Medical Liability โ informed consent protocols and patient safety mandates rigorously observed.
- โ ISO 9001:2015 Certification: Certificate No. INT/EGQ/2509DA/3139 โ audited and renewed for current compliance cycle.
- โ DHA Facility License No. 1143: Issued by the Dubai Health Authority, valid and current โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | NKX2-5 Gene Sequencing for Atrial Septal Defect with AV Conduction Defects (NGS) |
| Price (AED) | 2,800 AED (inclusive of cold-chain transport and telephonic post-test guidance) |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA (โฅ50 ng/ยตL), or DNA FTA Card โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with full coding region coverage ยฑ20 bp intronic boundaries; orthogonal Sanger confirmation of all clinically significant variants |
| ICD-10-CM Code | Q21.1 (Atrial septal defect), I44.30 (Atrioventricular block) |
| LOINC Code | 81301-1 (DNA sequencing of specified gene in blood) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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