Test Price
2,800 AED✅ Home Collection Available
AHCY Gene Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection daily from 8 AM to 11 PM.
- ✓ Clinical Guidance: Post-Test Telephonic Interpretation by DHA-Licensed Genetics Specialist.
- ✓ Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of the AHCY gene to detect pathogenic variants associated with S-adenosylhomocysteine hydrolase deficiency and hypermethioninemia. The assay is performed on whole blood or DNA FTA cards, delivering definitive molecular diagnosis for suspected inborn errors of sulfur amino acid metabolism. All variants are interpreted according to ACMG guidelines within our ISO-accredited laboratory.
| Feature | Our Test (AHCY NGS) | Closest Alternative (Biochemical Screen) |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) | Plasma amino acid profiling / enzyme assay |
| Diagnostic Precision | Single-nucleotide resolution, 99.9% sensitivity | Indirect; may miss mild variants |
| Turnaround Time | 3 – 4 Weeks | 1 – 2 Weeks (biochemical only, not confirmatory) |
| Price | 2800 AED | 1500 – 2500 AED (often requires genetic follow-up) |
Physician Insight & Safety Protocols
“Hypermethioninemia from S-adenosylhomocysteine hydrolase deficiency presents with developmental delay, hepatic dysfunction, and neurological deterioration. This NGS test provides a definitive molecular answer, but results must be integrated with clinical, biochemical, and family history before any intervention. Always correlate with a metabolic specialist and never base treatment decisions on genetic findings alone.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA: 9294403
Medication & Treatment Advisory
⚠️ Important Clinical Guidance
Do not discontinue prescribed medication or modify your child’s dietary plan without consulting your doctor.
Genetic results are only one part of the clinical picture. Abrupt changes in methionine-restricted diets or prescribed supplements can cause serious harm.
Patient Safety: Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Sample Collection
- Active febrile illness or unstable clinical condition requiring emergency care.
- Inability to provide informed consent (parental/guardian consent for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Recent blood transfusion (< 2 weeks) may interfere with germline DNA analysis.
🚨 Emergency Red Flags – Seek Immediate Medical Attention
- Sudden lethargy, vomiting, or loss of consciousness.
- Seizures or unexplained neurological regression.
- Signs of acute liver failure (jaundice, coagulopathy).
- Severe hyperammonemia crisis – go to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What exactly does the AHCY NGS test detect, and how reliable is it?
This test identifies disease-causing mutations in the entire AHCY gene using high-coverage next generation sequencing, achieving over 99.9% diagnostic sensitivity for S-adenosylhomocysteine hydrolase deficiency. It detects single nucleotide variants, small insertions, deletions, and copy number changes within the gene, providing a definitive molecular diagnosis when clinical and biochemical signs suggest this rare metabolic disorder. All results are interpreted according to ACMG guidelines by our ISO-accredited laboratory.
2. Who should consider this genetic test in the UAE?
Pediatricians, neonatologists, and clinical geneticists order this test for infants and children presenting with developmental delay, unexplained hypermethioninemia, hepatic dysfunction, or a family history of inborn errors of metabolism. It is also appropriate for asymptomatic siblings of a confirmed case, couples with prenatal screening concerns, and adults with late-onset neurological symptoms where a metabolic etiology is suspected. Pre-test genetic counselling is mandatory per DHA directives to ensure informed decision-making.
3. How should I prepare for the sample collection, and are there any dietary restrictions?
No fasting or dietary modification is required before the blood draw; however, you must inform our team of any blood-thinning medications and continue all prescribed treatments unless advised otherwise by your doctor. A clinical history form detailing the patient’s symptoms and family pedigree will be provided during the pre-genetic counselling session. For minors, a legal guardian must be present to sign consent as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability.
4. What is the turnaround time for receiving results?
The standard turnaround time is 3 to 4 weeks from sample receipt at our laboratory. This duration accounts for DNA extraction, library preparation, high-coverage NGS sequencing, bioinformatics analysis, variant interpretation, and clinical report generation by our certified molecular geneticists. Urgent cases may be expedited upon physician request and approval.
5. Is home sample collection available for this genetic test?
Yes, VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection is available daily from 8 AM to 11 PM across Dubai and the Northern Emirates. Our trained phlebotomists follow sterile protocols and use ISO-certified transport media to ensure sample integrity. Alternatively, you may visit our DHA-licensed facility in Dubai Healthcare City for in-person collection.
UAE Regulatory & Data Privacy Adherence
Compliance & Accreditation Framework
This service operates under DHA Facility License No. 1143, strictly adhering 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. All genetic testing requires explicit informed consent and pre- and post-test genetic counselling in compliance with UAE healthcare regulations. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), ensuring the highest standards of quality management and data security.
Patient genetic data is encrypted, access-controlled, and never shared with third parties without explicit written authorization. You retain full rights to access, rectify, or request deletion of your personal data under PDPL Article 8. For any privacy-related inquiries, contact our Data Protection Officer at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | AHCY Gene Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or DNA FTA Card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) – Full Coding Region Analysis |
| ICD-10-CM Code | E72.10 (Disorders of methionine metabolism) |
| LOINC Code | 94222-5 (AHCY gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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