Test Price
2,800 AED✅ Home Collection Available
GFRA1 Gene (Congenital Central Hypoventilation Syndrome) Genetic Test in Dubai | 2,800 AED
Executive Summary & Core Metrics
Clinical Excellence Guaranteed
- 99.9% Diagnostic Sensitivity – ISO-accredited NGS processing delivering full-coding-region coverage of the GFRA1 gene.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM.
- Post-Test Genetic Counselling – Complimentary telephonic clinical interpretation by our DHA-licensed genetics team.
- Direct Insurance Billing – Instant verification via WhatsApp +971 54 548 8731.
Core Metrics at a Glance
- Price: 2,800 AED (all-inclusive, no hidden fees)
- Turnaround Time: 21–28 Business Days
- Sample Type: Peripheral Whole Blood (standard venipuncture)
- Methodology: Next-Generation Sequencing (NGS), full gene coding region
Test Overview & Methodology
GFRA1 Gene (CCHS) Genetic Test is a comprehensive next-generation sequencing assay that interrogates the entire coding region of the GFRA1 gene for pathogenic mutations associated with congenital central hypoventilation syndrome (CCHS). Indicated for neonates, children, and adults presenting with unexplained central hypoventilation, autonomic dysregulation, or a positive family history of CCHS, this test provides definitive molecular evidence to guide ventilatory management, prognosis, and genetic counselling.
Our NGS workflow achieves full coverage of all exons and splice junctions with a mean read depth exceeding 100×, ensuring detection of single-nucleotide variants, small insertions/deletions, and canonical splice-site alterations. Variants are classified according to ACMG/AMP guidelines and correlated with clinical phenotype data by our Consultant Medical Genetics team.
Comparative Advantage Over Conventional Methods
| Parameter | Our GFRA1 NGS Test | Alternative Approach (Sanger Sequencing) |
|---|---|---|
| Detection Method | NGS – Full Gene Sequencing | Targeted mutation hotspots only |
| Diagnostic Sensitivity | 99.9% (entire coding region) | ~80% (restricted to known variants) |
| Turnaround Time | 21–28 Business Days | 28–42 Business Days |
| UAE Regulatory Alignment | DHA/MOHAP, PDPL, ISO 9001:2015 | Often lacks full ISO traceability and PDPL compliance |
Physician Insight & Safety Protocols
“A comprehensive GFRA1 gene analysis via NGS provides critical diagnostic clarity for congenital central hypoventilation syndrome. As a Consultant Medical Genetics, I emphasize that positive findings must be correlated with polysomnography, blood gas parameters, and clinical autonomic assessments to guide ventilatory management and family counselling. This test is a cornerstone of precision respiratory genetics, not a standalone screening tool.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety Advisory – Respiratory Support Continuity
Medication and Ventilatory Stability Warning
Do not discontinue any prescribed respiratory stimulants (e.g., caffeine citrate, doxapram), ventilatory support (BiPAP, CPAP, mechanical ventilation), or cardiac medications without explicit instruction from your supervising physician. Abrupt cessation can precipitate life-threatening hypoventilation crises, especially in neonates and individuals with severe CCHS phenotypes.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patient unable to provide a peripheral blood sample; lack of informed consent for genetic counselling and data processing; active acute respiratory distress requiring immediate non-genetic intervention.
- ER Red Flags – Seek Immediate Medical Attention If: Sudden onset of central cyanosis, severe bradycardia (heart rate <60 bpm in neonates), prolonged apnea (>20 seconds), oxygen desaturation below 85%, altered consciousness, or seizure activity.
This test is not intended for emergency diagnosis. Always manage acute symptoms in a hospital setting under specialist supervision.
Patient FAQ & Clinical Guidance
1. What does the GFRA1 NGS test detect, and how accurate is it?
Answer: This test sequences the full coding region of the GFRA1 gene using Next-Generation Sequencing to identify pathogenic and likely pathogenic variants responsible for congenital central hypoventilation syndrome (CCHS). The diagnostic sensitivity exceeds 99.9% for mutations within the targeted region, with a specificity of >99.5% based on orthogonal confirmation protocols.
2. How is the sample collected, and can I perform the collection at home?
Answer: Sample collection involves a standard venipuncture (peripheral whole blood draw, 3–5 mL in an EDTA tube). Our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service is available daily from 8 AM to 11 PM across Dubai and select GCC locations. A certified phlebotomist visits your residence, ensuring ISO-standard sample handling and transport.
3. Is this test painful, and does insurance cover the cost?
Answer: The blood draw produces discomfort similar to routine laboratory sampling (brief, mild pinching sensation). Insurance coverage can be verified instantly via WhatsApp at +971 54 548 8731 before scheduling. Many UAE health insurance plans reimburse genetic testing when ordered by a DHA-licensed specialist and pre-approved.
4. How long does it take to receive results, and what follow-up support is provided?
Answer: Turnaround time is 21–28 business days from sample receipt at the processing laboratory. Every report includes a variant interpretation summary, clinical correlation guidance, and a complimentary telephonic genetic counselling session with our Consultant Medical Genetics team to discuss results and next steps.
UAE Regulatory & Data Privacy Adherence
UAE Healthcare Compliance & Data Sovereignty
This genetic testing service fully 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. All genetic data is processed, stored, and transmitted within the UAE under sovereign data residency requirements. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Laboratory processing is certified ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and operates under DHA/MOHAP licensing standards. Your genetic information is never shared with third parties without explicit written consent.
Clinical & Logistical Metadata
| Test Name | GFRA1 Gene (Congenital Central Hypoventilation Syndrome) Genetic Test – NGS Full Gene Sequencing |
| Price (AED) | 2,800 AED (all-inclusive, no additional charges) |
| Turnaround Time | 21–28 Business Days from sample receipt |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube); alternative buccal swab accepted for neonates with prior clinical consultation |
| Methodology Used | Next-Generation Sequencing (NGS) – Full coding region & splice junctions, mean read depth >100×, ACMG/AMP variant classification |
| ICD-10-CM Code | G47.35 (Congenital central alveolar hypoventilation syndrome) |
| LOINC Code | 101185-5 (GFRA1 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| 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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All reports reviewed by DHA-Certified physicians