Test Price
2,800 AEDโ Home Collection Available
COL4A1 Gene Porencephaly, Familial Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- โ 99.9% Diagnostic Sensitivity via ISO-accredited NGS processing, providing definitive familial COL4A1 mutation detection.
- โ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- โ Clinical Guidance: Telephonic post-test genetic counseling by board-certified genetic counselors for result interpretation.
- โ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The COL4A1 Gene Porencephaly, Familial Genetic Test comprehensively analyzes the entire coding region and splice sites of the COL4A1 gene using Next Generation Sequencing (NGS) to identify pathogenic variants linked to familial porencephaly, cerebral small vessel disease, and brain malformations.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% sensitivity for point mutations, small indels, and exon-level copy number variants | High for single targeted region; limited for whole gene CNV detection |
| Method | Next Generation Sequencing (NGS) with clinically validated bioinformatics pipeline | Sanger sequencing โ one amplicon at a time |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (if multiple amplicons required) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403) advises: โThis NGS-based test detects pathogenic variants in COL4A1 associated with familial porencephaly and cerebral small vessel disease. Results must be interpreted in conjunction with neuroimaging and family history by a qualified clinical geneticist. A negative result does not exclude other genetic or acquired conditions. Regular follow-up with a pediatric neurologist remains essential. This test is a tool for risk stratification, not a substitute for comprehensive clinical evaluation.โ
Medication Advisory
Do not discontinue or alter any prescribed medication without consulting your doctor. Genetic test results are not an indication to change current therapy.
Safety Exclusion Criteria & Red Flags
- Exclusion: For minors, legal guardian consent is mandatory per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability. Sample collection may be delayed if the patient has active bleeding disorders or infection at the venipuncture site.
- ER Red Flag 1: Sudden severe headache, visual disturbances, or focal weakness in an infant or child โ may indicate an acute intracranial hemorrhage related to COL4A1 vasculopathy; seek emergency care immediately.
- ER Red Flag 2: New-onset seizures or loss of consciousness in a known carrier โ requires urgent neurological evaluation and neuroimaging.
Patient FAQ & Clinical Guidance
1. What is the COL4A1 gene test and who should get tested?
Quick Answer: This test detects mutations in the COL4A1 gene that cause familial porencephaly and cerebral small vessel disease. It is indicated for individuals with personal or family history of early-onset stroke, brain cysts, or developmental delay.
2. How is the sample collected and what is the turnaround time?
Quick Answer: Sample collection involves a simple blood draw, one drop of blood on an FTA card, or previously extracted DNA. VIP Mobile Phlebotomy is available for home collection. Results are delivered in 3โ4 weeks.
3. What do the results mean and what follow-up is required?
Quick Answer: Positive results confirm a genetic predisposition requiring lifelong neurological surveillance. Negative results reduce but do not eliminate risk, so clinical monitoring continues based on family history and symptoms.
UAE Regulatory & Data Privacy Adherence
This test is conducted in strict 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 patient data is encrypted and stored in UAE-based servers. Informed consent is obtained per Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory operates under DHA License 1143.
Clinical & Logistical Metadata
| Test Name | COL4A1 Gene Porencephaly, Familial Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, FTA Card, or Extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) โ Whole Gene Coding & Splice Site Analysis |
| ICD-10-CM Code | Q04.6 (Congenital cerebral cysts) |
| LOINC Code | 49990-2 (COL4A1 gene mutation analysis) |
| DHA Facility License & Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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