Test Price
2,800 AED✅ Home Collection Available
CBS Gene Homocystinuria (Cystathionine Beta‑Synthase Deficiency) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Key Service Benchmarks
- Diagnostic Accuracy: >99.9% sensitivity for CBS pathogenic variants via ISO‑15189 accredited NGS processing.
- Premium Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily 8 AM – 11 PM across all UAE emirates.
- Clinical Guidance: Complimentary telephonic result interpretation by a Consultant Medical Genetics specialist.
- Insurance Support: Direct coverage verification via WhatsApp at +971 54 548 8731 prior to service.
Test Overview & Methodology
The CBS gene test employs clinical-grade Next-Generation Sequencing (NGS) to deliver definitive molecular diagnosis of classic homocystinuria caused by cystathionine beta‑synthase deficiency. This condition is associated with life‑threatening vascular events including premature stroke, pulmonary embolism, and deep vein thrombosis. The assay interrogates the entire coding region and splice sites of the CBS gene, detecting single‑nucleotide variants, insertions, deletions, and copy‑number alterations with high confidence.
Results are reported according to ACMG/AMP variant classification guidelines and include actionable recommendations for dietary management (pyridoxine responsiveness), anticoagulation surveillance, and family cascade screening.
| Feature | CBS NGS Test (DNA Labs UAE) | Plasma Homocysteine Assay |
|---|---|---|
| Diagnostic Precision | >99.9% sensitivity for CBS pathogenic variants; definitive genotype | ~95% sensitivity; elevated levels non‑specific, require confirmatory testing |
| Methodology | Next‑Generation Sequencing (NGS) – full gene coverage | Immunoassay / LC‑MS/MS |
| Turnaround Time | 3–4 weeks | 3–5 days |
| Clinical Outcome | Confirms genetic subtype; guides lifelong management & family screening | Screening biomarker only; requires molecular confirmation |
Physician Insight & Safety Protocols
“Genetic results carry profound implications for patients and their families. This NGS panel provides clarity for those facing unexplained vascular disease, but every variant must be interpreted within the full clinical context, family pedigree, and biochemical profile. No therapeutic adjustments should be made based solely on this molecular report without direct consultation with a qualified genetics specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory: Post‑Result Guidance
Important: Do not discontinue, initiate, or alter any prescribed medication, dietary supplement (including pyridoxine or betaine), or anticoagulation therapy based on test results without explicit direction from your managing physician. The molecular report is a diagnostic adjunct, not a standalone treatment protocol.
Exclusion Criteria & Emergency Red Flags
- Exclusion: This genetic test is not performed on individuals under 18 years without written parental consent, in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Acutely ill, febrile, or pregnant patients should defer non‑urgent genetic testing until clinical stability is confirmed by a physician.
- Emergency Red Flags: Sudden shortness of breath, crushing chest pain, unilateral leg swelling or tenderness, sudden onset severe headache, or focal neurological deficits require immediate emergency department evaluation — these may indicate life‑threatening thromboembolism or stroke.
- Data Privacy: All genetic data is encrypted and processed exclusively under 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. No genetic information is shared with third parties without explicit written consent.
Patient FAQ & Clinical Guidance
1. What is the CBS gene test and who should consider it?
The CBS gene test uses NGS to identify disease-causing variants in the CBS gene, confirming a diagnosis of classic homocystinuria. This test is recommended for individuals with a personal or family history of unexplained thromboembolic events, early‑onset stroke, myocardial infarction before age 50, deep vein thrombosis, pulmonary embolism, or known consanguinity with homocystinuria. The result enables tailored management including pyridoxine response classification and anticoagulation planning.
2. How long do results take and how are they reported?
Turnaround time is 3 to 4 weeks from sample receipt at our ISO‑15189 accredited laboratory. Results are issued as a comprehensive molecular report in English, detailing all detected variants with ACMG/AMP classification, zygosity, population frequency data, and clinical interpretation. A telephonic consultation with our Consultant Medical Genetics specialist is provided at no additional charge to explain findings in plain language and address family implications.
3. Is home sample collection available for this genetic test?
Yes, we offer VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across all UAE emirates, available daily from 8 AM to 11 PM. Sample options include whole blood (EDTA), extracted DNA, or FTA card. The service is covered by most major insurance plans; direct billing verification is available via WhatsApp at +971 54 548 8731 prior to scheduling.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework: All genetic testing services at DNA Labs UAE operate under DHA Facility License Number 1143 and strictly adhere to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for the collection, processing, storage, and transfer of personal and genetic data. Additionally, the use of health information and communication technology conforms to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient consent, clinical safety, and medical liability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Results are delivered exclusively to the ordering physician and the patient through encrypted channels.
Clinical & Logistical Metadata
| Test Name | CBS Gene Homocystinuria (Cystathionine Beta‑Synthase Deficiency) Genetic Test – NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full gene coding regions & splice sites |
| ICD-10-CM Code | E72.11 |
| LOINC Code | 21636-6 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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