Test Price
2,800 AED✅ Home Collection Available
FA2H Gene SPG35 Next-Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical-Grade Genetic Certainty with DHA-Compliant Patient Support in Dubai
- Diagnostic Accuracy: 99.9% analytical sensitivity for single nucleotide variants, small insertions/deletions, and copy number variants via ISO 15189:2022 accredited NGS platform with bidirectional Sanger confirmation.
- Home Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across Dubai and the Northern Emirates.
- Post-Test Support: Complimentary telephonic genetic counseling session with a DHA-licensed consultant medical geneticist within 5 working days of result release.
- Insurance Verification: Submit your insurance e-card via WhatsApp at +971 54 548 8731 for direct billing eligibility assessment within 2 business hours.
- DHA Compliance: All procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Decree-Law No. 45 of 2021 on Personal Data Protection.
Test Overview & Methodology
The FA2H Gene SPG35 Next-Generation Sequencing (NGS) Genetic Test is a targeted molecular diagnostic assay designed to detect pathogenic variants in the FA2H gene, responsible for spastic paraplegia type 35 (SPG35). SPG35 is an autosomal recessive neurodegenerative disorder characterized by progressive lower limb spasticity, weakness, ataxia, and variable cognitive decline. This test utilizes whole-exon capture sequencing followed by bioinformatic analysis to identify single nucleotide variants, small insertions and deletions, and copy number variants across all coding exons and flanking intronic regions. All clinically significant findings are confirmed via bidirectional Sanger sequencing to ensure 99.9% diagnostic sensitivity and specificity. The test is performed under ISO 15189:2022 quality standards at the DNA Labs UAE Genetics Division.
| Feature | Our FA2H NGS Test (DNA Labs UAE) | Standard Hereditary Spastic Paraplegia Panel (External Lab) |
|---|---|---|
| Analytical Sensitivity | >99.9% for SNVs and small indels; validated CNV calling algorithm with >95% sensitivity | ~92% sensitivity; no dedicated CNV detection; common polymorphisms may be misclassified |
| Sequencing Depth | Average 150x coverage across all coding exons with uniform depth distribution (Q30 > 90%) | Average 80-100x; exon dropout rate up to 5% with no standardized confirmation protocol |
| Variant Classification | ACMG-AMP 2020 guidelines; every variant independently reviewed by two molecular geneticists | Automated classification only; no dual review; VUS resolution may take 8-12 weeks |
| Turnaround Time | 3-4 weeks from sample receipt at DHA licensed laboratory in Dubai Healthcare City | 6-8 weeks due to overseas sample shipping and batch processing delays |
Physician Insight & Safety Protocols
“A positive FA2H result confirms the molecular diagnosis of SPG35 and enables targeted management including physiotherapy, antispastic pharmacotherapy, and surveillance for associated complications such as dysphagia or respiratory insufficiency. However, the test must be interpreted within the full clinical context: a negative result does not exclude other hereditary spastic paraplegias, and a comprehensive multigene panel or whole exome sequencing may be warranted if clinical suspicion remains high. I strongly recommend pre-test genetic counseling and post-test discussion with a certified genetic counselor to review inheritance risks and reproductive options.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Advisory Notice
Important Clinical Guidance
- Do not discontinue or modify any prescribed medication based solely on genetic test results. All treatment changes must be directed by the managing neurologist.
- A positive FA2H result does not predict disease severity or progression rate; clinical correlation with neurological examination and family history is essential.
- If the test identifies a variant of uncertain significance (VUS), segregation analysis in family members may be required for reclassification. This may take additional 6-8 weeks.
Safety Exclusion Criteria
Patient Eligibility & Pre-Test Prerequisites
- Patients with acute febrile illness, active infection, or recent blood transfusion within the past 4 weeks should postpone sample collection to avoid sample quality compromise.
- Genetic testing for asymptomatic minors under the age of 18 requires explicit written parental consent and mandatory pre-test genetic counseling with a DHA-licensed genetic counselor. Results are released only to the pediatric neurologist managing the case.
- Emergency red flags requiring immediate neurological evaluation: sudden loss of ambulation, acute vision changes, new-onset uncontrolled seizures, or severe respiratory difficulty. These symptoms warrant urgent clinical assessment and should not be delayed pending genetic test results.
Patient FAQ & Clinical Guidance
1. What is SPG35 and how does the FA2H test help?
Spastic paraplegia type 35 (SPG35) is a rare autosomal recessive neurodegenerative disorder caused by pathogenic variants in the FA2H gene. The FA2H enzyme is essential for myelin synthesis in the central nervous system; loss of function leads to progressive leukodystrophy, lower limb spasticity, ataxia, and variable cognitive decline. The FA2H NGS test identifies disease-causing variants with high accuracy, enabling early molecular confirmation, personalized symptomatic management, avoidance of unnecessary invasive investigations, and informed family planning. Early diagnosis also opens eligibility for emerging gene-targeted therapies currently in clinical trial phases.
2. What sample type is required and how is collection arranged?
The test requires 4 mL of peripheral whole blood collected in an EDTA tube. No fasting or special dietary preparation is necessary. Collection is arranged via our VIP Mobile Phlebotomy service, available daily from 8 AM to 11 PM across Dubai, Abu Dhabi, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah. A DHA-licensed phlebotomist will attend your home or hotel using clinically validated sterile equipment and temperature-controlled transport packaging. Pre-test genetic counseling is mandatory and will be scheduled within 24 hours of booking to review the informed consent form and family pedigree.
3. How will I receive the results and what follow-up support is provided?
The clinical report is released within 3-4 weeks of sample receipt at our Dubai Healthcare City laboratory. Results are delivered electronically via a secure encrypted portal to your referring neurologist or clinical geneticist. The report includes: full variant list with ACMG-AMP 2020 classification, coverage statistics, and a clinically annotated summary. Within 5 working days of result release, a complimentary telephone consultation is scheduled with Lina Osama Zaki Quteineh, our DHA-licensed Consultant Medical Genetics, to explain the findings, discuss implications, and answer questions regarding inheritance risks, family testing, and potential clinical trial eligibility. If a VUS is reported, recommendations for segregation studies will be provided.
UAE Regulatory & Data Privacy Adherence
This genetic test and all associated workflows are fully compliant with the UAE regulatory framework governing diagnostic genomics and patient data protection. All personal health information is processed and stored in accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring encryption in transit and at rest, access control via role-based permissions, and secure data erasure protocols. Clinical-testing safety, including specimen integrity, laboratory quality management, and informed-consent procedures, strictly follows Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient consent processes, accountability standards, and liability protections adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates under DHA Facility License Number 1143 and is subject to ongoing audit by the Dubai Health Authority. No genetic data is shared with third parties without explicit written patient consent, except as required by UAE law for notifiable public health conditions.
Clinical & Logistical Metadata
| Test Name | FA2H Gene SPG35 Next-Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 weeks from sample receipt at DHA licensed laboratory |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube, 4 mL) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with whole-exon capture, bioinformatic analysis, and bidirectional Sanger confirmation for all clinically significant variants |
| ICD-10-CM Code | G11.4 |
| LOINC Code | 90837-4 |
| DHA Facility License & Address | License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE Corporate Lab |
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