Test Price
2,800 AED✅ Home Collection Available
UPB1 Gene Beta-Ureidopropionase Deficiency Genetic Test – 2,800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via NGS processed in an ISO 9001:2015 accredited laboratory.
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 Guidance for result interpretation by experienced genetic counsellors.
Price: 2,800 AED | Turnaround Time: 3–4 Weeks
Test Overview & Methodology
The UPB1 Genetic Test sequences the entire coding region of the UPB1 gene to diagnose beta‑ureidopropionase deficiency, a rare neurometabolic disorder. This Next‑Generation Sequencing (NGS) analysis detects single nucleotide variants, small insertions/deletions, and copy number changes with high accuracy.
| Feature | Our Test (NGS) | Enzymatic Activity Assay |
|---|---|---|
| Methodology | Next‑Generation Sequencing (full gene) | Biochemical measurement in fibroblasts |
| Variant Detection | Single nucleotide, indels, CNV | Not applicable – only functional level |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks (cell culture required) |
| Diagnostic Sensitivity | >99.9% for targeted variants | ~85% (may miss silent carriers) |
| Sample Type | Blood, extracted DNA, or one drop on FTA Card | Skin biopsy (invasive) |
Physician Insight & Safety Protocols
“Genetic results must always be correlated with the clinical phenotype by a specialist. An abnormal UPB1 finding does not replace thorough neurological and metabolic evaluation; it is one piece of a complex diagnostic puzzle. Please reach out to our genetic counsellor to interpret the result in the context of your child’s health.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
⚠ Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. This test is not a replacement for routine clinical care.
Emergency Red Flags: If the individual develops acute vomiting, lethargy, seizures, hypotonia or metabolic acidosis, seek immediate emergency medical attention – do not wait for genetic test results.
Patient Exclusion Criteria
Patient unable to provide voluntary informed consent (for minors, legal guardian required as per Federal Decree-Law No. 4 of 2016 on Medical Liability), haemodynamically unstable, severe coagulopathy precluding blood collection.
Patient FAQ & Clinical Guidance
1. What is the UPB1 Genetic Test and what does it detect?
The UPB1 Genetic Test detects pathogenic mutations in the UPB1 gene causing beta‑ureidopropionase deficiency, an inborn error of pyrimidine metabolism. This highly accurate sequencing covers the entire coding region, identifying single nucleotide variants, small insertions/deletions, and copy number changes. A positive result confirms the molecular diagnosis, enabling tailored medical management and family planning.
2. Who should consider this genetic test for UPB1 deficiency?
This test is recommended for infants, children, or adults presenting with unexplained neurological symptoms, developmental delay, hypotonia, or dysmorphic features suggestive of a pyrimidine disorder. It is also indicated for carrier screening in families with a known UPB1 mutation and for at‑risk relatives seeking clarity. A paediatrician or neonatologist typically initiates the investigation after excluding common metabolic disorders.
3. How accurate is the UPB1 NGS and what does a positive result mean?
With >99.9% analytical sensitivity for the targeted gene, a positive result indicates a disease‑causing mutation has been identified, confirming the diagnosis of beta‑ureidopropionase deficiency. A negative result, however, does not fully rule out the disorder; clinical correlation and additional metabolic testing may still be necessary. Results should always be reviewed by a clinical geneticist alongside the patient’s full medical history.
UAE Regulatory & Data Privacy Adherence
This test is performed 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 genetic data is stored encrypted and accessed only by authorized clinical personnel. The laboratory is accredited ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). Home collection services are available daily from 8 AM to 11 PM with VIP Mobile Phlebotomy and temperature‑controlled cold‑chain transport.
Clinical & Logistical Metadata
| Test Name | UPB1 Gene Beta-Ureidopropionase Deficiency Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (21–28 Business Days) |
| Sample Type / Matrix | Peripheral Blood, Extracted DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (Full Gene) |
| ICD-10-CM Code | E79.8 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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