Test Price
2,800 AED✅ Home Collection Available
AASS Gene Saccharopinuria Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Core Diagnostic Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing with Sanger validation for all clinically significant variants.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Dubai and GCC locations.
- Clinical Guidance: Confidential post-test teleconsultation with a DHA-licensed Consultant Medical Genetics to interpret your personalized report and discuss familial implications.
- Insurance & Billing: Direct billing verification via WhatsApp: +971 54 548 8731. Cash, card, and insurance plans accepted.
Test Overview & Methodology
The AASS Gene Saccharopinuria Genetic Test is a comprehensive next-generation sequencing assay that analyses the entire coding region and conserved splice sites of the AASS gene. Pathogenic variants in this gene cause saccharopinuria, a rare autosomal recessive disorder of lysine metabolism. This test provides definitive molecular diagnosis, carrier screening, and prenatal planning guidance for families at risk. Clinical interpretation is performed by Consultant Medical Genetics specialists using ACMG/AMP variant classification guidelines.
Clinical Intent & Referring Specialists: This test is ordered by General Physicians during diagnostic workup, interpreted by Clinical Geneticists for familial risk assessment, and managed by Metabolic Specialists for long-term dietary and pharmacological care.
| Feature | Our Test (AASS NGS) | Closest Alternative (Plasma Amino Acid Assay) |
|---|---|---|
| Molecular Resolution | Single-nucleotide variants, indels, copy number changes | Biochemical elevation only (non-specific) |
| Clinical Utility | Definitive diagnosis, carrier status, prenatal planning | Screening; requires reflex to genetic testing |
| Turnaround Time | 3–4 weeks | 1–2 weeks (non-definitive) |
| Methodology | NGS with Sanger validation | High-performance liquid chromatography |
Physician Insight & Safety Protocols
"A definitive diagnosis of saccharopinuria requires careful correlation of genetic findings with plasma lysine and saccharopine levels, as well as a detailed family pedigree. I strongly recommend that all patients—whether symptomatic or asymptomatic—receive comprehensive post-test genetic counseling to understand recurrence risks, carrier implications, and long-term metabolic management. Our team at DNA Labs UAE provides a structured telehealth consultation to walk you through every aspect of your report."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Important Clinical Advisory
Medication & Management Advisory
Do not discontinue, adjust, or modify any prescribed dietary supplements, metabolic therapies, or medications without direct consultation with your treating metabolic specialist. This genetic test is designed to inform diagnosis and family planning; it does not replace ongoing clinical management of metabolic conditions. Always carry an emergency medical alert card if you or your child has a confirmed metabolic disorder.
Exclusion Criteria & Emergency Red Flags
Do Not Proceed With Sample Collection If
- Inability to provide informed consent or documented parental consent for minors (genetic counseling is mandatory for all patients under 18 years per UAE Federal Law No. 2 of 2019).
- Acute metabolic crisis: hyperammonemia, persistent vomiting, severe lethargy, or seizures—seek immediate emergency care before scheduling elective genetic testing.
- Inadequate venous access or refusal of venipuncture.
- Red Flags: Sudden onset of confusion, ataxia, respiratory distress, or loss of consciousness in a child with suspected metabolic disease; proceed directly to the nearest hospital emergency department.
Patient FAQ & Clinical Guidance
1. What does the AASS Gene Saccharopinuria NGS Test detect?
Answer: This test identifies pathogenic single-nucleotide variants, small insertions/deletions, and copy number alterations within the AASS gene that cause saccharopinuria, a rare autosomal recessive disorder of lysine metabolism. The result provides a definitive molecular diagnosis, enables carrier screening for at-risk family members, and supports prenatal planning.
2. Why choose NGS over a standard plasma amino acid panel?
Answer: Next-generation sequencing provides a precise molecular etiology, eliminating the ambiguity of non-specific biochemical elevations. While amino acid panels can suggest a metabolic disturbance, only genetic testing confirms the specific gene defect, guides accurate recurrence risk counseling, and informs targeted dietary management.
3. What is the turnaround time and how will I receive my results?
Answer: Results are delivered within 3 to 4 weeks from sample receipt. A secure digital PDF report is shared via encrypted email or our patient portal, followed by a scheduled teleconsultation with a DHA-licensed Consultant Medical Genetics who will explain the findings, clinical implications, and recommended next steps.
4. Is home blood collection available for this genetic test?
Answer: Yes. Since the specimen is standard peripheral whole blood, our VIP Mobile Phlebotomy service and Temperature-Controlled Cold-Chain Home Collection are available daily from 8 AM to 11 PM. A certified phlebotomist visits your residence, office, or hotel to ensure a seamless and safe sampling experience.
5. Do I need to fast or prepare in any way before the blood draw?
Answer: Fasting is not mandatory for this genetic test. However, please provide a complete list of current medications, supplements, and dietary therapies to your metabolic specialist. For minors, a parent or legal guardian must provide signed informed consent and be present during the sample collection.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Legal Compliance Framework
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and adheres to the highest standards of medical data protection and patient privacy. All genetic test results, clinical records, and personal data are handled in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and storage of personal and genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating electronic health records, telemedicine, and digital clinical communications.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — ensuring patient safety, informed consent, and professional accountability in all diagnostic procedures.
Our laboratory is ISO 9001:2015 certified (Certification No. INT/EGQ/2509DA/3139), and all genetic testing is performed under strict confidentiality protocols. Your data is encrypted, access-restricted, and never shared with third parties without your explicit written consent.
Clinical & Logistical Metadata
| Test Name | AASS Gene Saccharopinuria Genetic Test (NGS with Sanger Validation) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (2–5 mL in EDTA tube). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) of entire AASS coding region and conserved splice sites, with orthogonal Sanger validation of all clinically significant variants. |
| ICD-10-CM Code | E72.3 (Disorders of lysine and hydroxylysine metabolism — Saccharopinuria) |
| LOINC Code | 55233-1 (Genetic analysis of AASS gene) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143. Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab Branding: DNA Labs UAE. |
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