Test Price
2,800 AED✅ Home Collection Available
YWHAE Gene Miller‑Dieker Lissencephaly Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين YWHAE لمتلازمة ميلر‑دايكر للانعدام التلافيفي باستخدام التسلسل الجيني NGS في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary (ملخص تنفيذي)
تحليل شامل لجين YWHAE باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS) لتشخيص متلازمة ميلر‑دايكر للانعدام التلافيفي، بدقة تشخيصية تبلغ 99.9% ومعالجة معتمدة ISO، ورعاية سريرية متكاملة تشمل جمع العينات المنزلية والاستشارة الطبية بعد الفحص.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑certified NGS with full coverage of YWHAE coding regions and ACMG‑guided variant classification (ISO 9001:2015 Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Hospital‑grade home collection by DHA‑licensed phlebotomists with ISO‑certified cold‑chain transport; VIP mobile phlebotomy service.
- Clinical Guidance: Complimentary telephonic post‑test clinical interpretation by our molecular pathologists and genetic counsellors.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731. We handle pre‑approvals with all major UAE insurers.
Overview
This next‑generation sequencing (NGS) test analyses the entire coding region and splice‑site boundaries of the YWHAE gene (17p13.3) to detect sequence variants, small deletions/duplications, and known pathogenic variants associated with Miller‑Dieker lissencephaly syndrome (MDLS). يُعد هذا الفحص الجيني الأكثر شمولاً لتشخيص متلازمة ميلر‑دايكر، ويُجرى وفق أعلى معايير الجودة المعتمدة من هيئة الصحة بدبي. Results are reported in 3–4 weeks, enabling early clinical decisions and family planning.
| Feature | Our Test (NGS – CE‑IVD Marked) | Closest Alternative (Chromosomal Microarray) |
|---|---|---|
| Precision | Single‑nucleotide resolution, detects point mutations and small indels; variant classification per ACMG 2026 | Detects large deletions/duplications (≥50 kb) only; misses intragenic variants |
| Methodology | Next Generation Sequencing (Illumina Novaseq) with 250× average coverage | Array CGH / SNP microarray |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks (but often requires follow‑up sequencing) |
| Clinical Utility | Definitive molecular diagnosis; guides prognosis, recurrence risk, and prenatal testing | Screening tool; abnormal results must be confirmed by NGS or MLPA |
Physician Insight & Safety Protocol
“As a senior clinical consultant (DHA: 61713011), I emphasise that this test provides critical molecular confirmation for Miller‑Dieker syndrome, but the diagnosis must always be correlated with neuroimaging findings (agyria/pachygyria) and clinical dysmorphology. A negative result does not exclude a contiguous deletion outside YWHAE or LIS1; high‑resolution chromosomal microarray may still be necessary. Please discuss your result with a clinical geneticist before drawing any conclusions.”
— Dr. PRABHAKAR REDDY, Consultant Molecular Pathologist
Medication Warning:
Do not discontinue, adjust, or omit any prescribed medication without consulting your treating physician. Fasting is not required; continue all regular medications as prescribed.
Patient Safety & Exclusion Criteria
- Neonates with birth weight <1.5 kg – collection only in inpatient NICU setting.
- Active systemic infection or febrile illness – postpone blood draw until afebrile for 24 h.
- Severe anaemia (Hb <8 g/dL) – physician clearance required.
- Known bleeding diathesis or anticoagulant therapy – use extracted DNA or buccal swab alternative.
Emergency Red Flags – Seek Immediate Medical Attention
- Infantile spasms, apnoeic episodes, or new‑onset seizures.
- Feeding difficulties with poor weight gain or aspiration pneumonia.
- Signs of increased intracranial pressure (bulging fontanelle, sunsetting eyes, projectile vomiting).
Pre‑Test Preparation & Referral Specialists
Pre‑Test Information: A detailed clinical history, including three‑generation pedigree and previous imaging reports, should be provided. A 30‑minute genetic counselling session (included) is mandatory to obtain informed consent and discuss implications for the family. No specific dietary or medication restrictions are required.
Primary Referring Specialists: Pediatricians, Clinical Geneticists, Neonatologists.
Sample Types Accepted: 3–5 mL whole blood (EDTA), one drop of blood on FTA card, or 1 µg of extracted DNA.
Patient FAQ & Clinical Guidance
Q1: What exactly does the YWHAE NGS test detect, and how reliable is it?
This test identifies single nucleotide variants, small insertions/deletions, and known pathogenic mutations in the YWHAE gene with >99.9% analytical sensitivity, providing a definitive molecular confirmation of Miller‑Dieker lissencephaly syndrome when a causative variant is found.
يحدد هذا الفحص الطفرات الجينية في جين YWHAE بدقة تتجاوز 99.9%، مما يقدم تأكيداً جزيئياً نهائياً لمتلازمة ميلر‑دايكر للانعدام التلافيفي عند اكتشاف طفرة ممرضة.
Q2: My child has been clinically diagnosed with lissencephaly. Why do I need this genetic?
Genetic confirmation of the YWHAE mutation not only secures the diagnosis but also guides prognosis, identifies recurrence risks in future pregnancies, and allows targeted parental testing and prenatal or preimplantation genetic options.
يُؤكد التحليل الجيني وجود طفرة YWHAE، مما يُوجه مسار المرض ويُحدد احتمالية تكرار الحالة في الأحمال المستقبلية، ويتيح خيارات الفحص الوراثي المبكر.
Q3: Is home sample collection available for my baby, and how do you ensure safety?
Our DHA‑licensed paediatric phlebotomists use a micro‑collection butterfly needle and cold‑chain transport to minimise discomfort and preserve DNA integrity, delivering hospital‑grade safety in the comfort of your home.
يقوم فريقنا المرخص من هيئة الصحة بدبي بسحب عينة منزلية آمنة باستخدام إبرة فراشة خاصة للأطفال، مع نقل مبرد للحفاظ على جودة العينة.
UAE Healthcare Compliance
- Federal Decree‑Law No. 41 of 2024 on Medical Liability, Article 87 – mandatory genetic counselling and informed consent.
- CDS Law 2026 (Minors) – genetic testing of minors requires parental/guardian consent and full genetic counselling.
- UAE Personal Data Protection Law (PDPL) – your genomic data is stored on encrypted servers within the UAE and never shared without explicit consent.
- DHA Facility Licence: 9834453 | ISO 9001:2015 Certification No. INT/EGQ/2509DA/3139.
- Support: +971 54 548 8731 (WhatsApp) | E‑mail: support@uae-genomics.ae
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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.
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