Test Price
2,800 AED✅ Home Collection Available
MYO5A Gene (Griscelli Syndrome Type 1) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary telephonic post‑test consultation for result interpretation by a clinical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The MYO5A Gene NGS Test is a comprehensive genetic analysis for diagnosing Griscelli syndrome type 1, a rare autosomal recessive disorder characterized by partial albinism and immune dysfunction. The test employs high‑coverage Next‑Generation Sequencing to detect single‑nucleotide variants, small insertions/deletions, and copy number variations across the entire MYO5A gene, delivering definitive clinical confirmation within 3–4 weeks.
| Feature | Our Test – NGS (MYO5A Full Gene) | Closest Alternative – Targeted Sanger Sequencing |
|---|---|---|
| Method | Massively Parallel Next-Generation Sequencing | Capillary Sanger Sequencing |
| Gene Coverage | Entire coding region + splice sites (±20 bp) | Selected exons only; may miss deep intronic variants |
| Variant Detection | SNVs, indels, CNVs (read‑depth based) | SNVs and small indels; no CNV detection |
| Turn‑Around Time | 21–28 Calendar Days | 4–6 Weeks (often batched) |
| Diagnostic Yield | >99% for pathogenic variants | ~85% (limited to common exons) |
| Regulatory Alignment | Compliant with DHA and MOHAP standards | May lack UAE‑specific accreditation |
Physician Insight & Safety Protocols
“Genetic testing for Griscelli syndrome must be interpreted alongside clinical findings, family history, and immune function. Never alter current treatments or medications based solely on a genetic result – always consult your managing physician for integrated care. This test is a tool for diagnosis and personalised management, not a standalone directive.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory Notice
Do not discontinue or modify any prescribed therapy, including immunomodulators, corticosteroids, or other medications, without consulting your managing physician. This test is a diagnostic tool, not a substitute for ongoing clinical management.
Safety & Exclusion Criteria
- Exclusion Criteria: Patients with severe bleeding disorders (e.g., haemophilia with active bleeding), severe anaemia, or inability to provide informed consent. Postpone collection if you have a fever >38.5°C or signs of acute systemic infection.
- Red Flags – Seek Immediate ER (911): Sudden severe headache, uncontrolled seizures, difficulty breathing, or signs of acute encephalopathy. This genetic test is not designed for acute diagnostic emergencies.
- Paediatric Consent: For minors, a legal guardian must accompany the collection and sign consent forms as per Federal Decree‑Law No. 4 of 2016 on Medical Liability. Home collection adheres to strict DHA safety protocols.
Patient FAQ & Clinical Guidance
1. What is the MYO5A gene and what does the test detect?
This NGS test identifies disease‑causing mutations in the MYO5A gene responsible for Griscelli syndrome type 1, a rare disorder of pigmentation and immunity. The analysis covers the complete coding region, detecting point mutations, small deletions/insertions, and exon‑level copy number changes, giving a comprehensive genetic diagnosis for affected individuals or carrier status in relatives.
2. How is the sample collected and is home service available?
A certified phlebotomist visits your home to collect a simple blood sample or dried blood spot for painless DNA extraction. We use ISO‑certified cold‑chain transport to preserve sample integrity. Simply book via WhatsApp at +971 54 548 8731; our VIP mobile team operates daily from 8 AM to 11 PM across all UAE emirates.
3. How long do results take and what do they mean?
Results are typically ready in 3–4 weeks, providing a definitive diagnosis of Griscelli syndrome type 1 or ruling out pathogenic variants. A positive result confirms the genetic cause and enables targeted surveillance and treatment; a negative result may warrant further testing for related disorders. A complimentary teleconsultation with our clinical geneticist will explain your report in detail and outline the next clinical steps.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE 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 encrypted, access‑controlled, and processed solely for diagnostic purposes. Patient consent is obtained and documented in accordance with applicable health data protection frameworks. Our DHA‑licensed facility ensures the highest standards of confidentiality and integrity.
Clinical & Logistical Metadata
| Test Name | MYO5A Gene Full NGS Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Calendar Days |
| Sample Type / Matrix | Peripheral Whole Blood or Dried Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Analysis |
| ICD‑10‑CM Code | Q82.8 |
| LOINC Code | 62014-7 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians