Test Price
2,800 AED✅ Home Collection Available
ASNS Gene Asparagine Synthetase Deficiency Genetic Test in UAE | 2800 AED | DHA-Approved
Executive Summary & Core Metrics
DHA-Compliant Genomic Diagnostics
- 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: Telephonic Post-Test Clinical Support for result interpretation and genetic counselling.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ASNS Gene Asparagine Synthetase Deficiency Genetic Test is a definitive molecular assay that thoroughly analyses the entire coding region of the ASNS gene using Next-Generation Sequencing. This test identifies pathogenic variants responsible for asparagine synthetase deficiency, a severe autosomal recessive neuro-metabolic disorder characterised by congenital microcephaly, intractable seizures, and global developmental delay.
| Feature | Our Test (ASNS NGS) | Closest Alternative (Single-gene Sanger) |
|---|---|---|
| Precision | Full-gene coverage with 1000x depth; detects SNVs, indels, and CNVs | Limited to targeted exons; may miss deep intronic variants |
| Methodology | ISO-validated NGS (Next Generation Sequencing) with bioinformatic confirmation | Capillary Sanger sequencing |
| Turnaround | 3–4 Weeks (expedited possible) | 6–8 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403: “This test provides critical molecular confirmation when clinical presentation suggests asparagine synthetase deficiency. However, genetic results must always be correlated with biochemical and neurological findings—a negative report does not exclude the disorder if clinical suspicion remains high. I strongly advise that families receive pre- and post-test genetic counselling to fully understand the implications of the findings.”
Advisory Notice
Clinical Advisory
Do not discontinue prescribed medication without consulting your doctor. This genetic test does not replace clinical management or ongoing therapeutic interventions. Results must be interpreted by a qualified medical geneticist in the context of the full clinical picture.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients unable to provide informed consent (or guardian consent for minors) in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Sample contamination or insufficient DNA quantity (<1 µg) will require recollection.
- Emergency Red Flag: If the patient exhibits acute metabolic decompensation (lethargy, vomiting, hypoglycaemia), seek immediate emergency care—do not wait for genetic results.
Patient FAQ & Clinical Guidance
1. What is the purpose of the ASNS gene test, and when should it be ordered?
The test confirms asparagine synthetase deficiency in patients with microcephaly, refractory epilepsy, and developmental delay by identifying biallelic ASNS mutations. It should be ordered when clinical and neuroimaging findings point to this rare neuro-metabolic disorder.
2. How is the sample collected, and what preparation is needed?
A VIP mobile phlebotomy collection of whole blood is performed by a certified phlebotomist between 8 AM and 11 PM with temperature-controlled cold-chain transport. No fasting is required. A mandatory pre-genetic counselling session is conducted to document family history and draw a pedigree chart.
3. What do the results mean and how will they be used by my doctor?
A positive result confirms the diagnosis and enables targeted management, family screening, and reproductive planning. A negative or uncertain result requires clinical correlation, and your doctor may recommend further metabolic testing or whole exome sequencing if suspicion persists.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This laboratory test is conducted in full compliance 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 patient data are encrypted, access-controlled, and processed solely for diagnostic purposes with explicit consent. DNA Labs UAE holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and is licensed by the Dubai Health Authority (DHA Facility License No. 1143).
Clinical & Logistical Metadata
| Test Name | ASNS Gene Asparagine Synthetase Deficiency Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (expedited possible) |
| Sample Type / Matrix | Whole Blood (Peripheral) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) with bioinformatic confirmation |
| ICD-10-CM Code | E79.8 |
| LOINC Code | 94495-4 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians
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