Test Price
2,800 AED✅ Home Collection Available
GUCY1A3 Gene NGS Test for Moyamoya Type 6 with Achalasia | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity and specificity via ISO‑accredited next‑generation sequencing.
- Premium Logistics: VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection (daily 8 AM–11 PM).
- Clinical Guidance: Complimentary pre‑ and post‑test tele‑consultation with a DHA‑licensed medical geneticist.
- Insurance & Payment: Direct billing verification; WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GUCY1A3 Next‑Generation Sequencing (NGS) test detects pathogenic variants in the gene encoding soluble guanylate cyclase, which is associated with Moyamoya disease type 6 and achalasia. This advanced genomic analysis provides a definitive molecular diagnosis, enabling tailored surveillance and early intervention for affected individuals. The test is performed on peripheral whole blood (or equivalent DNA extracts) using an Illumina® platform with full‑gene coverage.
| Feature | Our UAE NGS Test | Closest Alternative (Overseas Referral) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity | Variable; often 95‑98% with older panels |
| Method | Full‑gene NGS (Illumina® platform) | Sanger sequencing or targeted partial‑gene analysis |
| Turnaround Time | 3–4 weeks | 4–6 weeks plus international shipping delays |
| Genetic Counselling | In‑house, DHA‑licensed pre‑ and post‑test | Often not available or requires separate referral |
| Local Regulatory Compliance | Full DHA/MOHAP adherence | May not align with UAE genetic data laws |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Geneticist, I emphasize that this test identifies mutations in GUCY1A3 strongly linked to Moyamoya type 6 with achalasia; however, a negative result does not exclude other genetic or acquired causes of these conditions. Clinical correlation with brain imaging, gastroenterology assessment, and family history remains essential. Always discuss your results with a specialist before altering any medical management.”
— Lina Osama Zaki Quteineh, DHA License No. 9294403
Medication Advisory Warning
Do not discontinue prescribed medications (e.g., antiplatelets, proton pump inhibitors) without consulting your treating physician. Genetic results inform risk, not immediate therapy changes.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent; refusal of genetic counselling; acute febrile illness at the time of blood draw; prior bone marrow transplant (may affect DNA source).
- Emergency Red Flags: Sudden onset of stroke‑like symptoms (limb weakness, facial droop, speech difficulty); severe dysphagia with weight loss; transient vision loss – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What exactly does the GUCY1A3 NGS test reveal about my or my child’s health?
Our NGS test detects pathogenic variants in the GUCY1A3 gene linked to Moyamoya type 6 and achalasia with 99.9% accuracy. A positive result confirms a genetic predisposition to cerebrovascular narrowing (moyamoya) and esophageal motility disorder, enabling early monitoring and preventive strategies; a negative result greatly reduces but does not entirely eliminate the risk of these conditions, as other genetic or environmental factors may still play a role.
2. How is the sample collected and what is the expected turnaround time?
A simple blood draw (or alternatives such as extracted DNA or a single drop of blood on an FTA card) is required. Our certified phlebotomist can perform a VIP home visit; the sample is transported under strict cold‑chain conditions, and results are typically delivered within 3 to 4 weeks. You will receive a secure electronic report reviewed by a board‑certified geneticist.
3. Is genetic counselling mandatory and how can I arrange it?
Yes, pre‑test genetic counselling is mandatory to ensure informed consent and to draw a detailed pedigree. Our DHA‑licensed genetic counsellors will guide you through inheritance patterns, potential implications for family members, and the significance of the result. The session can be conducted via secure tele‑consultation; you can book it by calling or messaging +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with the following UAE legal frameworks:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree‑Law No. 4 of 2016 on Medical Liability
- ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
Clinical & Logistical Metadata
| Test Name | GUCY1A3 Gene NGS Test for Moyamoya Type 6 with Achalasia |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (Illumina® platform), full‑gene coverage |
| ICD‑10‑CM Code | I67.5, K22.0 |
| LOINC Code | 90509-0 |
| 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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