Test Price
2,800 AEDโ Home Collection Available
HSPD1 Gene SPG13 Genetic Test in UAE โ Hereditary Spastic Paraplegia Type 13 NGS Analysis
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% via ISO 15189-accredited Next-Generation Sequencing (NGS) with full HSPD1 gene coverage.
- Premium Logistics: Complimentary VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test consultation with a DHA-licensed Consultant Medical Geneticist for result interpretation and family counseling.
- Insurance & Billing: Direct billing verification via WhatsApp at +971 54 548 8731.
- Price: 2,800 AED inclusive of genetic analysis, clinical report, and geneticist consultation.
Test Overview & Methodology
The HSPD1 Gene SPG13 Genetic Test delivers definitive molecular diagnosis of Hereditary Spastic Paraplegia type 13 (SPG13) by detecting pathogenic variants in the HSPD1 gene. This test is indicated for individuals presenting with progressive lower-limb spasticity, gait impairment, and a compatible family history. Results guide family risk assessment, reproductive planning, and long-term neurological surveillance.
| Feature | DNA Labs UAE โ NGS Platform | Alternative Methods |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity, full gene coverage including intronic and splice-site regions | Sanger sequencing โ single-variant analysis, may miss novel or large rearrangements |
| Methodology | NGS on Illumina NovaSeq X Plus with bioinformatic validation and variant classification per ACMG guidelines | Capillary electrophoresis or targeted genotyping โ lower throughput and limited scope |
| Turnaround Time | 3 to 4 weeks including clinical report and geneticist interpretation | 4 to 6 weeks, often without integrated genetic counseling |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics specialist, I emphasize that molecular confirmation of HSPD1 mutations through comprehensive NGS analysis is essential for accurate diagnosis of SPG13. The results must be interpreted in conjunction with clinical presentation and family pedigree analysis. A definitive genetic diagnosis empowers informed family counseling and enables proactive neurological surveillance. I strongly recommend that all patients discuss their results with a geneticist and neurologist before making any clinical decisions.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory: Medication Continuity
Do not discontinue, alter, or suspend any prescribed neurological medication without direct consultation with your treating physician. This genetic test provides diagnostic clarification and does not replace ongoing clinical management or therapeutic regimens. Always maintain your current treatment plan until explicitly advised otherwise by your doctor.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Blood transfusion within the last 3 months; absence of informed consent; minors without legal guardian consent as per UAE Federal Law.
- Emergency Red Flags: Sudden-onset paraplegia, acute bilateral lower limb weakness, loss of bladder or bowel control, or new severe psychiatric symptoms โ these may indicate non-genetic emergencies requiring immediate hospital evaluation. Do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the purpose of the HSPD1 Gene SPG13 NGS Test?
This NGS test detects pathogenic variants in the HSPD1 gene that cause Hereditary Spastic Paraplegia type 13 (SPG13). It is indicated for individuals with progressive lower limb spasticity, gait disturbance, and a family history suggestive of hereditary spastic paraplegia. A positive result confirms the diagnosis, enables accurate genetic counseling for at-risk relatives, and supports reproductive planning and personalized neurological surveillance.
2. How is the test performed and what sample is needed?
We collect a peripheral whole blood sample or DNA FTA card during a scheduled home visit by a certified phlebotomist. The collection process follows ISO-certified protocols with temperature-controlled cold-chain transport to the laboratory. No fasting is required unless otherwise specified by your referring physician. The sample is processed using Illumina NovaSeq X Plus NGS technology with full bioinformatic analysis.
3. What do the results mean for me and my family?
A positive result identifies a pathogenic HSPD1 variant confirming SPG13, which has implications for autosomal dominant inheritance risk in first-degree relatives. A negative result excludes HSPD1 as the cause but does not rule out other genetic or non-genetic etiologies of spastic paraplegia; further neurologic and genetic workup may be warranted. All results are accompanied by a telephonic consultation with a DHA-licensed Consultant Medical Geneticist to discuss implications and next steps.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
This genetic test is conducted in full 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 genetic data is handled with strict confidentiality, anonymization, and secure encryption protocols. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Laboratory Accreditation: ISO 15189:2022 (Medical Laboratories) and ISO 9001:2015 (Quality Management). All testing is performed at our DHA-licensed facility in Dubai Healthcare City.
Clinical & Logistical Metadata
| Test Name | HSPD1 Gene SPG13 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (including clinical report and geneticist interpretation) |
| Sample Type / Matrix | Peripheral Whole Blood or DNA FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus with bioinformatic analysis and ACMG variant classification |
| ICD-10-CM Code | G11.4, Z14.8, Z82.79 |
| LOINC Code | 86254-4 |
| DHA Facility License & Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians