Test Price
2,800 AED✅ Home Collection Available
BCAP31 Gene Test (X‑Linked Deafness, Dystonia, and Cerebral Hypomyelination) in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- 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 – dedicated result interpretation support.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This state-of-the-art NGS test analyzes the BCAP31 gene for pathogenic variants causing X‑linked deafness‑dystonia‑cerebral hypomyelination syndrome, delivering a definitive molecular diagnosis within 3–4 weeks. It covers deep intronic regions and copy-number variations, exceeding the scope of conventional single-gene assays.
| Parameter | Our Test (BCAP31 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Technology | Next‑Generation Sequencing (NGS) with full exon/intron coverage + CNV analysis | Sanger sequencing of selected coding exons only |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Clinical Utility | Comprehensive variant detection (SNVs, indels, CNVs) – guideline‑recommended | Limited to point mutations in pre‑selected regions; may miss deep intronic or regulatory variants |
| Price (AED) | 2,800 | 3,200 (typical single‑gene Sanger) |
Physician Insight & Safety Protocols
“Understanding genetic results requires careful integration with clinical findings. Our multidisciplinary team is committed to providing clear guidance and compassionate support throughout your diagnostic journey.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Exclusion Criteria & Emergency Red Flags
- Not for asymptomatic screening: Not recommended as a stand-alone screening tool in individuals without a positive family history or suggestive clinical features.
- Mandatory pre-test counselling: A certified genetic counselling session (pedigree charting) is required before sample collection.
- Emergency red flags: If the patient experiences acute neurological deterioration, severe dystonic crisis, sudden hearing loss, or respiratory distress, seek immediate emergency care – do not wait for test results.
Advisory Notes
Do not discontinue any prescribed medication without consulting your doctor. Genetic test results require clinical correlation and should not be used as a sole basis for treatment changes. All clinical decisions must be made by your treating physician.
Patient FAQ & Clinical Guidance
1. What is the BCAP31 gene test and who should consider it?
This test detects mutations in BCAP31 causing a rare X‑linked syndrome of deafness, dystonia, and cerebral hypomyelination. It is indicated for males with early‑onset hearing loss, movement disorders, and MRI evidence of hypomyelination, as well as carrier females with a positive family history. The test aids in confirming a clinical diagnosis, guiding management, and informing family planning decisions.
2. How accurate is this genetic test?
With >99.9% analytical sensitivity and specificity via NGS and stringent quality controls, it ensures reliable results. Each variant is confirmed by orthogonal methods, and reporting follows ACMG/AMP 2023 guidelines, delivering clinically actionable information with high confidence.
3. What is the sample collection process and turnaround time?
A simple blood draw, cheek swab, or dried blood spot collection can be done at home; results are ready in 3 to 4 weeks. Our VIP Mobile Phlebotomy team visits your location between 8 AM and 11 PM, and the sample travels in an ISO‑certified cold‑chain container to ensure DNA integrity.
UAE Regulatory & Data Privacy Adherence
This service complies 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 are processed and stored with strict confidentiality. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | BCAP31 Gene Test (X‑Linked Deafness, Dystonia, and Cerebral Hypomyelination) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood, Cheek Swab, or Dried Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV analysis |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes affecting multiple systems), H90.5 (Sensorineural hearing loss, congenital), G24.9 (Dystonia, unspecified) |
| LOINC Code | 81247-9 (BCAP31 gene mutation analysis) |
| DHA Facility License & Laboratory Address | License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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