Test Price
2,800 AEDโ Home Collection Available
CYP7B1 Gene SPG5A Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Overview โ This advanced NGS genetic test provides definitive molecular diagnosis of hereditary spastic paraplegia type 5A (SPG5A) by sequencing the complete CYP7B1 gene. It is essential for patients presenting with unexplained progressive lower-limb spasticity, gait disturbance, or a positive family history of autosomal recessive spastic paraplegia. The analysis is performed in our ISO 9001:2015 accredited laboratory, ensuring diagnostic sensitivity exceeding 99.9%.
- โ 99.9% Diagnostic Sensitivity โ ISO 9001:2015 accredited NGS processing with full gene coverage and clinical-grade variant interpretation.
- โ Premium Logistics โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- โ Telephonic Post-Test Clinical Guidance โ Expert genetic counselors explain results and next steps in English or Arabic.
- โ Direct Billing Verification โ WhatsApp +971 54 548 8731 to confirm coverage before collection.
Test Overview & Methodology
The CYP7B1 Genetic Test targets the CYP7B1 gene located on chromosome 8q12.3, which encodes the oxysterol 7-alpha-hydroxylase enzyme critical in bile acid synthesis. Pathogenic variants in this gene lead to an accumulation of neurotoxic oxysterols, causing progressive degeneration of the corticospinal tracts and resulting in SPG5A. Our test employs Next Generation Sequencing (NGS) with Sanger confirmation to detect point mutations, small insertions/deletions, and splice-site variants across all coding exons and flanking intronic regions.
| Parameter | DNA Labs UAE CYP7B1 NGS Test | Closest Alternative |
|---|---|---|
| Diagnostic Precision | Full gene sequencing with >99% analytical sensitivity and specificity | Targeted hot-spot analysis; misses rare or novel variants |
| Methodology | Next Generation Sequencing (NGS) with Sanger confirmation | Sanger sequencing of limited exons |
| Turnaround Time | 3 to 4 Weeks | 6 โ 10 Weeks |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Often non-certified overseas labs |
Physician Insight & Safety Protocols
"Genetic testing for CYP7B1-related SPG5A offers a molecular anchor for what is often a clinically challenging diagnosis. A positive result allows for targeted family counselling and potential early intervention strategies. However, I must stress that this test must always be integrated with a comprehensive neurological evaluation, including detailed family pedigree analysis and consideration of other inherited spastic paraplegias. Pre- and post-test genetic counselling is not optionalโit is a clinical necessity."
โ Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Exclusion Criteria & Emergency Red Flags
- This test is not intended for emergency diagnosis; acute onset of paralysis or vision loss requires immediate ER evaluation.
- Testing is contraindicated without pre-test genetic counselling โ a detailed pedigree must be drawn.
- Red Flags: Rapid neurological deterioration, sudden loss of ambulation, or new-onset seizures โ go to the nearest emergency department.
- Minors must have informed consent from a legal guardian as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Medication Advisory
Do not discontinue or alter any prescribed medication without consulting your neurologist. Genetic results provide diagnostic clarification and should never be used as a sole basis for changing therapeutic regimens, including antispasticity agents or other neurological treatments. All clinical decisions require specialist review.
Patient FAQ & Clinical Guidance
1. What is the CYP7B1 genetic test and who needs it?
The CYP7B1 NGS test detects mutations causing SPG5A hereditary spastic paraplegia in individuals with progressive leg stiffness.
This advanced NGS panel sequences all coding regions of the CYP7B1 gene. It is recommended for patients with gradually worsening spasticity, abnormal gait, or a positive family history. Neurologists, medical geneticists, and pediatric neurologists typically order this test to confirm SPG5A, differentiate it from other spastic paraplegias, and provide reproductive risk counselling.
2. How is the test performed and what sample type is required?
A simple blood sample (EDTA whole blood) or extracted DNA is required; next-generation sequencing analyzes the entire CYP7B1 gene.
We accept whole blood collected in an EDTA tube, purified DNA, or a drop of blood on an FTA card. Our VIP mobile phlebotomist visits your home (8 AM โ 11 PM) using cold-chain transport. No special diet or medication stop is needed. The sample is processed in our ISO-certified lab, ensuring chain-of-custody from collection to report.
3. What do the results mean and how long do they take?
Results identify pathogenic CYP7B1 variants linked to SPG5A; final report typically delivered in 3โ4 weeks.
A positive report confirms the specific mutation(s) responsible for hereditary spastic paraplegia type 5A, enabling family cascade testing. Negative results do not rule out all genetic causes, so clinical follow-up remains essential. Every report includes a clinician-friendly interpretation and a recommendation for a genetic counselling session. You will receive a telephonic consultation to explain findings in Arabic or English.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with the UAE's regulatory framework for genetic diagnostics and health data protection. All patient data, including genetic results, are processed and stored 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. Informed consent and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds the requisite DHA license for genetic testing and ensures that all personnel handling samples and data are bound by strict confidentiality agreements.
Clinical & Logistical Metadata
| Test Name | CYP7B1 Gene SPG5A Genetic Test (NGS) |
| Price (AED) | 2800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | G11.4 |
| LOINC Code | 81205-3 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians