Test Price
2,800 AED✅ Home Collection Available
AASS Gene Hyperlysinemia Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed Diagnostics
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity for pathogenic AASS variant detection via ISO 15189 accredited next-generation sequencing.
Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection, available daily 8 AM to 11 PM, with hospital-grade specimen handling.
Clinical Guidance: Post-test telephonic consultation by a Consultant Medical Geneticist for comprehensive result interpretation and recurrence risk assessment.
Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731; accept major UAE health insurance plans.
Test Overview & Methodology
This targeted next-generation sequencing (NGS) assay interrogates the complete coding region and intron-exon boundaries of the AASS gene to confirm a molecular diagnosis of Hyperlysinemia Type 1 (OMIM 238700). Hyperlysinemia Type 1 is a rare autosomal recessive inborn error of lysine metabolism caused by mutations in the AASS gene encoding aminoadipate-semialdehyde synthase. Definitive genotypic confirmation via NGS significantly outperforms traditional biochemical plasma lysine assays by identifying specific pathogenic variants, enabling accurate prenatal counseling, dietary intervention planning, and prognosis stratification.
| Feature | Our Test — AASS NGS Panel | Alternative — Plasma Lysine HPLC |
|---|---|---|
| Method | Next-Generation Sequencing (NGS, Illumina platform, 150x mean depth) | High-Performance Liquid Chromatography (HPLC) with amino acid derivatization |
| Diagnostic Precision | 99.9% sensitivity/specificity for AASS coding variants; detects missense, nonsense, splice-site, and frameshift mutations | Detects elevated lysine only; result may be transient (e.g., postprandial) or non-specific (e.g., secondary to liver disease) |
| Turnaround Time | 3–4 weeks from sample receipt | 5–7 days |
| Clinical Utility | Confirms diagnosis, enables carrier testing, guides prognosis and dietary management, informs recurrence risk for family planning | Screening tool only; elevated result requires molecular confirmation before any clinical action |
Physician Insight & Safety Protocols
Clinical Insight from Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
In my clinical practice, families presenting with a child exhibiting developmental regression, seizure disorder, or unexplained hyperlysinemia often endure prolonged diagnostic odysseys. The AASS NGS test offers definitive closure: identifying the precise biallelic pathogenic variants empowers clinicians to implement a targeted dietary regimen—lysine restriction with arginine supplementation—and provide accurate recurrence risk counseling for future pregnancies. I emphasize that this molecular test must always be interpreted alongside the patient's full clinical phenotype, plasma amino acid profile, and, when indicated, parental segregation studies.
Medication & Therapeutic Advisory
Do not alter or discontinue any prescribed dietary therapy (e.g., lysine-restricted formula, arginine supplementation) or anti-epileptic medication based solely on genetic test results. All clinical management decisions must be made in conjunction with your treating metabolic physician or geneticist. Genetic testing provides diagnostic confirmation, not a substitute for active clinical monitoring and therapeutic supervision.
Safety Exclusion Criteria & Immediate Action Red Flags
- Contraindicated during an acute metabolic crisis or decompensation episode — the patient must be clinically stable prior to venipuncture.
- If the patient exhibits new-onset severe vomiting, lethargy, focal or generalized seizures, altered consciousness, or respiratory distress, proceed directly to the nearest emergency department; do not await genetic results.
- Minimum specimen requirement: 2 mL of peripheral whole blood collected in a lavender-top (EDTA) vacuum tube. Clotted, hemolyzed, or insufficient-volume samples will be rejected for processing.
- For pediatric patients under 18 years, a legally authorized guardian must provide written informed consent in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and the UAE federal consent framework.
Patient FAQ & Clinical Guidance
1. What is the AASS gene test for Hyperlysinemia Type 1?
This targeted NGS test analyzes the entire coding sequence and splice junctions of the AASS gene (located on chromosome 7q31.1) to identify disease-causing mutations responsible for Hyperlysinemia Type 1. The disorder impairs the bifunctional enzyme aminoadipate-semialdehyde synthase, disrupting the first two steps of lysine catabolism. Genetic confirmation via this test is the gold standard for diagnosing this rare autosomal recessive condition, guiding lifelong dietary management and family planning.
2. Why is this test recommended for patients with suspected metabolic disease?
When a child or adult presents with clinical features suggestive of a lysine metabolism disorder—including developmental delay, intellectual disability, seizures, spasticity, or persistently elevated plasma lysine on newborn screening or follow-up metabolic workup—this test provides definitive molecular confirmation. It distinguishes Hyperlysinemia Type 1 from secondary hyperlysinemia (e.g., due to liver dysfunction) and from phenotypically overlapping conditions such as glutaric acidemia type 1 or pyridoxine-dependent epilepsy, thereby avoiding unnecessary treatments and enabling precise genetic counseling for extended family members.
3. How should I prepare for the AASS gene test and what logistics are involved?
Prior to blood collection, a tele-genetic counseling session is scheduled to obtain a three-generation pedigree, document phenotypic details, and secure informed consent. No special fasting or dietary preparation is required. A trained phlebotomist from our VIP mobile service will visit your home within a designated 2-hour window (8 AM to 11 PM daily) to collect a peripheral EDTA whole blood specimen, which is transported to our CAP-accredited laboratory via ISO-certified cold chain. Results are issued to the referring physician within 21–28 calendar days, followed by a telephonic consultation with our Consultant Medical Geneticist to review implications.
UAE Regulatory & Data Privacy Adherence
Data Protection & Regulatory Compliance Framework
Your genetic data is processed under the strictest UAE federal privacy mandates. We comply fully with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring that your genomic sequence data is encrypted, access-controlled, and never shared without explicit consent. In alignment with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, all electronic health records and test results are stored on UAE-sovereign servers with full audit trail logging. Clinical procedures and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing your right to informed consent, result confidentiality, and medico-legal recourse. DNA Labs UAE operates under DHA Facility License 1143, and you may verify our status directly with the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | AASS Gene Sequencing – Hyperlysinemia Type 1 (NGS) |
| Price (AED) | 2,800 AED (including genetic counseling session) |
| Turnaround Time | 21–28 calendar days from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA, 2 mL minimum) – VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM to 11 PM |
| Methodology Used | Targeted next-generation sequencing (Illumina platform, 150x mean coverage depth, including all coding exons and flanking intronic regions ±20 bp of the AASS gene) |
| ICD-10-CM Code | E72.3 (Disorders of lysine and hydroxylysine metabolism) |
| LOINC Code | 21636-6 (Gene mutations identified in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | Licence No. 1143 | DNA Labs UAE — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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