ASPM Gene Microcephaly Autosomal Recessive Type 5 Genetic Test in UAE | 2800 AED | NGS Sequencing

Name: ASPM Gene Microcephaly Autosomal Recessive Type 5 Genetic Test
Brand: DNA Labs UAE
SKU: DX-LAB-2558
Price: 2800 AED
Availability: InStock

Executive Summary & Core Metrics

This next-generation sequencing (NGS) test provides definitive molecular confirmation for autosomal recessive primary microcephaly type 5 (MCPH5) caused by pathogenic variants in the ASPM gene. The assay achieves greater than 99.9% diagnostic sensitivity for single-nucleotide variants and copy-number changes across the entire coding region. Processing is performed in an ISO 9001:2015-certified laboratory with full gene coverage, CNV detection capability, and a standard turnaround time of 3–4 weeks. The service includes temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Direct insurance billing verification can be obtained via WhatsApp at +971 54 548 8731. A mandatory pre-test genetic counselling session for pedigree assessment and clinical history review is required prior to specimen collection.

Test Overview & Methodology

The ASPM gene encodes a protein essential for mitotic spindle function in neural progenitor cells; loss-of-function variants lead to reduced neuronal proliferation and severe microcephaly at birth. This assay uses probe-based hybrid capture enrichment followed by Illumina short-read sequencing to interrogate all exons and flanking intronic regions of ASPM. Bioinformatic pipelines detect single-nucleotide variants, small insertions or deletions, and genomic copy-number alterations. The test replaces older targeted Sanger sequencing panels that only examine a subset of exons and cannot detect large deletions or duplications. All results are interpreted according to ACMG guidelines and confirmed by Sanger sequencing for novel or uncertain variants.

Feature	Our Test (ASPM NGS)	Closest Alternative (Targeted Sanger)
Methodology	Whole-gene NGS with CNV detection, ISO 9001:2015	Amplicon-based Sanger sequencing of selected exons
Analytical Sensitivity	Greater than 99.9% for SNVs and large deletions or duplications	Approximately 95% for point mutations only; CNVs missed
Turnaround Time	3–4 weeks	6–8 weeks

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403), advises: "This NGS-based analysis provides critical molecular confirmation for MCPH5, yet all results must be correlated with a thorough clinical evaluation, pedigree construction, and family history assessment. A negative sequencing result does not exclude a diagnosis of microcephaly, as other genetic or environmental causes may be responsible. Post-test genetic counselling is essential to discuss recurrence risks, reproductive options, and management strategies. Do not discontinue any prescribed medications or therapies without prior consultation with your treating physician."

Advisory Notice on Medication and Therapy Continuity

Medication and Therapy Advisory

Do not discontinue prescribed medications, supportive therapies, or clinical interventions without direct consultation with your treating physician.

Safety Exclusion Criteria and Clinical Red Flags

Patients under 13 years require mandatory parental or guardian consent in accordance with UAE Federal Law No. 2 of 2019 concerning health information use and paediatric research protections.
Pregnant women seeking prenatal diagnosis must be counselled by a clinical geneticist; invasive sampling is performed only after thorough risk-benefit discussion and written informed consent.
Individuals with active bleeding disorders, thrombocytopenia, or severe anaemia must inform the phlebotomist prior to blood collection to assess bleeding risk and determine the safest sampling method.
Emergency Red Flags: If the patient exhibits signs of increased intracranial pressure (projectile vomiting, sunsetting eyes, severe headaches, altered consciousness) or acute neurological deterioration, seek immediate emergency care and postpone elective genetic testing.

Patient FAQ & Clinical Guidance

1. How accurate is this test for diagnosing MCPH5?

With greater than 99.9% diagnostic sensitivity for pathogenic ASPM variants, whole-gene NGS with CNV detection provides a definitive molecular diagnosis when combined with clinical and radiological assessment. The assay covers all coding exons and detects both single-nucleotide changes and larger structural rearrangements.

2. Does a negative result rule out microcephaly?

No, a negative NGS result means that no pathogenic variant was identified in the ASPM gene. Microcephaly can be caused by pathogenic variants in numerous other genes (e.g., MCPH1, CDK5RAP2, CENPJ, STIL) or by non-genetic factors such as congenital infection, maternal toxin exposure, or perinatal hypoxia. Genetic counselling is recommended to explore broader testing options if clinical suspicion remains high.

3. Can I use a home collection service for this test?

Yes. A temperature-controlled cold-chain VIP mobile phlebotomy service is available daily from 8 AM to 11 PM across all UAE emirates. A trained phlebotomist visits your home, collects a peripheral whole blood sample or dried blood spot on an FTA card, and transports it under refrigerated conditions to our ISO 9001:2015-certified laboratory. This service ensures sample integrity and patient convenience.

4. What sample types are accepted for this test?

Accepted specimen matrices include peripheral whole blood collected in EDTA tubes (minimum 2 mL), extracted genomic DNA (minimum 1 µg at 20 ng/µL), or a single dried blood spot on a validated FTA card. For paediatric patients, finger-prick dried blood spots are preferred to minimise invasive blood draws. All samples must be labelled with unique patient identifiers and accompanied by a completed requisition form.

UAE Regulatory & Data Privacy Adherence

Data Protection and Compliance Framework

DNA Labs UAE operates under DHA Facility License Number 1143 and complies with all applicable UAE federal laws governing health data privacy and clinical laboratory practice. Patient data handling adheres to 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. Clinical safety and patient consent requirements follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic information is encrypted, access-restricted, and retained only as long as required by regulatory mandates. Patients may request access, correction, or deletion of their personal data in accordance with PDPL Article 18.

Clinical & Logistical Metadata

Test Name	ASPM Gene Microcephaly Autosomal Recessive Type 5 Genetic Test (NGS)
Price (AED)	2,800 AED
Turnaround Time	3–4 weeks
Sample Type / Matrix	Peripheral whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card). Hospital Extraction Only – Sample collection is conducted strictly within an accredited hospital facility; mobile home phlebotomy is disabled for safety.
Methodology Used	Next-Generation Sequencing (NGS) with full-gene coverage and CNV detection; ISO 9001:2015 certified
ICD-10-CM Code	Q02
LOINC Code	94809-4
DHA Facility License & Address	License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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