Test Price
2,800 AED✅ Home Collection Available
YWHAE Gene Miller‑Dieker Lissencephaly Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
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). The test provides definitive molecular diagnosis with 99.9% analytical sensitivity, enabling early clinical decisions and family planning.
- 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 consultant medical geneticist and genetic counsellors.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731. We handle pre‑approvals with all major UAE insurers.
Test Overview & Methodology
The YWHAE gene NGS test uses Illumina Novaseq technology with 250× average coverage to sequence the entire coding region and intronic splice‑site boundaries. Variant classification follows ACMG guidelines. Results are reported in 3–4 weeks. 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 include pediatricians, clinical geneticists, and neonatologists.
| 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 | 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 Protocols
“As a consultant medical geneticist, I emphasize 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.”
— Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory
Do not discontinue, adjust, or omit any prescribed medication without consulting your treating physician. Fasting is not required; continue all regular medications as prescribed.
Exclusion Criteria & Emergency Red Flags
- 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).
Patient FAQ & Clinical Guidance
1. 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.
2. My child has been clinically diagnosed with lissencephaly. Why do I need this genetic test?
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.
3. 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. VIP mobile phlebotomy service is available daily from 8 AM to 11 PM.
UAE Regulatory & Data Privacy Adherence
UAE Healthcare Compliance
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – your genomic data is stored on encrypted servers within the UAE and never shared without explicit consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – ensuring secure handling of electronic health records.
- DHA Facility Licence: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE
- Support: +971 54 548 8731 (WhatsApp) | E‑mail: info@dnalabsuae.com
Clinical & Logistical Metadata
| Test Name | YWHAE Gene Miller‑Dieker Lissencephaly Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), FTA Card, Extracted DNA. VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina Novaseq 250× average coverage |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 101107-6 |
| DHA Facility License & Laboratory Address Invariants | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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