Test Price
2,800 AED✅ Home Collection Available
BTD Gene (Biotinidase Deficiency) Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity – ISO 9001:2015‑accredited NGS processing (Cert: INT/EGQ/2509DA/3139) ensuring near‑perfect analytical accuracy.
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Hospital‑grade, ISO‑certified cold‑chain logistics (8 AM‑11 PM) with VIP phlebotomy. Sample types: whole blood, extracted DNA, or one‑drop blood on an FTA card.
Post‑Test Clinical Guidance – Direct telephonic result interpretation by an expert medical genetics team.
Insurance Billing – Direct verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The BTD Gene Biotinidase Deficiency NGS Test sequences the entire coding region of the BTD gene using Next Generation Sequencing to detect pathogenic variants responsible for biotinidase deficiency – a treatable autosomal recessive metabolic disorder. Early molecular diagnosis enables prompt biotin supplementation, preventing irreversible neurological damage.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Targeted Panel/Sanger) |
|---|---|---|
| Methodology | Next Generation Sequencing (complete BTD coding region) | Sanger sequencing or limited mutation hotspot panel |
| Diagnostic Yield | >99.9% analytical sensitivity for SNVs, indels, and large rearrangements | ~85‑90% detection; may miss deep intronic or large deletions |
| Turnaround Time | 3–4 weeks (optimised UAE workflow) | 4–6 weeks |
| Variant Interpretation | ClinGen‑curated ACMG/AMP 2025 criteria | Often limited to known pathogenic variants |
Physician Insight & Safety Protocols
“Families often carry deep concern when a genetic condition is suspected in a child. This comprehensive BTD gene sequencing provides the definitive molecular answer needed to initiate life‑changing biotin therapy without delay. Early supplementation can completely prevent the seizures, skin inflammation, and hearing loss that define untreated biotinidase deficiency. Always correlate genetic findings with clinical presentation and family history.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory: Biotin Supplementation
Never stop or change prescribed biotin or any other medication without first consulting your managing physician. Abrupt cessation of biotin in a symptomatic individual can provoke metabolic decompensation, leading to coma or irreversible neurologic injury.
Exclusion Criteria & Emergency Red Flags
- Receipt of allogeneic blood transfusion or stem cell transplant within 2 weeks – may invalidate germline DNA analysis.
- Neonates <2 weeks of age require a clinical genetics consultation before sampling.
- Seek Emergency Care if: Sudden seizures, severe hypotonia, hearing loss, developmental regression, or unexplained skin rash appear – these may indicate acute biotinidase deficiency decompensation.
Patient FAQ & Clinical Guidance
1. What is biotinidase deficiency and how is it inherited?
Biotinidase deficiency is an autosomal recessive metabolic disorder caused by harmful mutations in the BTD gene, preventing the body from recycling dietary biotin. If untreated, it leads to neurological and cutaneous symptoms. Both parents must carry a mutation for a child to be affected. Carrier frequency is estimated at 1 in 120 individuals in many populations.
2. Why choose NGS over traditional Sanger sequencing for BTD testing?
NGS comprehensively sequences the entire BTD gene, detecting all variant types – including deep intronic and large deletions – with 99.9% analytical sensitivity, while Sanger may miss rare mutations. This ensures no pathogenic variant is overlooked, crucial for definitive diagnosis and appropriate family counselling.
3. How should I prepare for the test and understand the results?
Prior genetic counselling and clinical history documentation are mandatory; a pedigree chart must be drawn to identify familial patterns of biotinidase deficiency before sample collection. Results require expert interpretation – benign, pathogenic, or variants of uncertain significance (VUS) will be clearly explained during telephonic post‑test guidance provided by our genetics consultant.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE law. This laboratory strictly complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing all patient genetic and health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating digital health data handling and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring clinical safety and informed consent standards for all diagnostic procedures.
ISO 9001:2015 Certified (INT/EGQ/2509DA/3139). All genetic data is encrypted, access‑controlled, and processed exclusively within the UAE jurisdiction.
Clinical & Logistical Metadata
| Test Name | BTD Gene (Biotinidase Deficiency) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) – Full BTD Gene Coding Region |
| ICD-10-CM Code | E75.22 |
| LOINC Code | 81321-0 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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