Test Price
2,800 AED✅ Home Collection Available
ASPM Gene Microcephaly Autosomal Recessive Type 5 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ASPM للتنسج الدقيق (الصَّعَل) المتنحي الصبغي الجسدي النوع الخامس بتقنية التسلسل الجيني الشامل (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
This NGS-based test delivers definitive genetic confirmation for autosomal recessive primary microcephaly type 5 (MCPH5) with 99.9% diagnostic sensitivity and full gene sequencing. ISO 9001:2015‑certified processing, paid hospital‑grade cold‑chain home collection, and post‑test clinical guidance are included. Direct insurance billing verification via WhatsApp at +971 54 548 8731.
يوفر هذا الاختبار الجيني بتقنية التسلسل الجيني الشامل (NGS) لتحديد طفرات جين ASPM تشخيصاً قاطعاً لمرض الصَّعَل الأولي المتنحي الصبغي الجسدي النوع الخامس (MCPH5) بحساسية تشخيصية تبلغ 99.9%. يُجرى في مختبر معتمد وفقاً لمواصفة ISO 9001:2015، ويشمل خدمة جمع العينات المنزلية المبردة بمواصفات المستشفيات وتوجيهات سريرية هاتفية بعد الاختبار. كما يتوفر التحقق المباشر من تغطية التأمين عبر واتساب على الرقم +971 54 548 8731.
Test Overview
The ASPM Gene Microcephaly test analyses the entire coding region of the ASPM gene via next‑generation sequencing to identify pathogenic variants responsible for MCPH5 – a severe neurodevelopmental disorder characterised by markedly reduced head circumference and intellectual disability. This gold‑standard assay replaces older targeted panels and is aligned with 2026 ACMG guidelines for comprehensive genetic diagnosis.
| Feature | Our Test (ASPM NGS) | Closest Alternative (Targeted Sanger Sequencing) |
|---|---|---|
| Methodology | Whole‑gene NGS with CNV detection, ISO 9001:2015 | Amplicon‑based Sanger sequencing of selected exons |
| Analytical Sensitivity | >99.9% for single‑nucleotide variants and large deletions/duplications | ~95% for point mutations only; misses copy‑number changes |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
Physician Insight & Safety Protocol
Dr. Prabhakar Reddy (DHA License: 61713011) advises: "This test provides critical molecular confirmation, but all results must be interpreted in the context of a thorough clinical evaluation and family history. A negative result does not exclude a diagnosis – genetic counselling remains essential to guide management and recurrence risk. Please do not discontinue any prescribed medication or therapy without consulting your physician."
Do not discontinue prescribed medication or supportive therapies without direct consultation with your doctor.
- Patients under 13 years require mandatory parental/guardian consent in line with UAE CDS Law 2026.
- Pregnant women seeking prenatal diagnosis must be counselled by a clinical geneticist; invasive sampling only after thorough risk‑benefit discussion.
- Individuals with active bleeding disorders or severe anaemia must inform the phlebotomist prior to blood collection.
- Emergency Red Flags: if the patient exhibits signs of increased intracranial pressure (projectile vomiting, sunsetting eyes, severe headaches) or acute neurological deterioration, seek immediate emergency care and postpone elective genetic testing.
Frequently Asked Questions
Q1: How accurate is this test for diagnosing MCPH5?
With 99.9% diagnostic sensitivity for pathogenic ASPM variants, next‑generation sequencing of the entire gene provides a definitive molecular diagnosis when combined with clinical assessment.
بدقة تشخيصية تصل إلى 99.9% للطفرات المسببة للمرض، يوفر التسلسل الجيني الشامل للجين ASPM تشخيصاً جزيئياً قاطعاً عند دمجه مع التقييم السريري.
Q2: Does a negative result rule out microcephaly?
No, a negative NGS result only means no pathogenic variant was found in ASPM; microcephaly can be caused by many different genes or non‑genetic factors.
لا، فالنتيجة السلبية تعني فقط عدم وجود طفرة ممرضة في جين ASPM؛ فقد ينجم الصَّعَل عن العديد من الجينات الأخرى أو العوامل غير الوراثية.
Q3: Can I use a home collection service for this test?
Yes, we provide a paid hospital‑grade cold‑chain home collection service (8 AM–11 PM) across the UAE, ensuring sample integrity until it reaches our ISO‑certified laboratory.
نعم، نقدم خدمة جمع العينات المنزلية المبردة بمواصفات المستشفيات (من 8 صباحاً حتى 11 مساءً) في جميع أنحاء الإمارات، مما يضمن سلامة العينة حتى وصولها إلى مختبرنا الحاصل على شهادة ISO.
Pre‑ Information: Clinical history and a genetic counselling session to draw a pedigree chart of affected family members with ASPM‑related microcephaly are required before specimen collection. Sample types accepted: whole blood, extracted DNA, or one drop of blood on FTA card.
Accreditations: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Facility License: 9834453
Compliance: Federal Decree‑Law No. 41 of 2024 (Art. 87); UAE PDPL; CDS Law 2026 for minors. All data handled with strict privacy safeguards.
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ISMS 27001:2022
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