Test Price
2,800 AED✅ Home Collection Available
ERLIN2 Gene SPG18 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Test Overview & Methodology
The ERLIN2 gene NGS test sequences the entire coding region and conserved non‑coding elements of the ERLIN2 gene to detect mutations causing autosomal recessive or dominant spastic paraplegia type 18 (SPG18). It empowers neurologists, genetic counsellors, and researchers with precise molecular confirmation for patients presenting with progressive lower‑limb spasticity, gait disturbances, and upper motor neuron signs.
Our laboratory uses validated NGS panels on Illumina platforms with >50× average coverage across all exons, detecting single nucleotide variants, small insertions/deletions, and large copy number variations (CNVs) whenever indicated.
| Feature | Our ERLIN2 NGS Test | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) | Sanger sequencing |
| Detection Scope | Whole gene, including deep intronic and CNV regions | Targeted amplicons only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Analytical Sensitivity | > 99.9% | ~95% |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I understand the uncertainty families face when a hereditary spastic paraplegia is suspected. The ERLIN2 NGS test provides definitive molecular answers that guide prognosis and family planning. However, every genetic result must be correlated with the complete neurological examination and family history. I strongly recommend a post‑test counselling session to fully interpret the implications and discuss cascade testing for at‑risk relatives.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue any prescribed medication without consulting your treating physician. Genetic test results are complementary to clinical management and do not replace ongoing therapy. Always discuss any changes in symptoms or new findings with your neurologist.
Exclusion Criteria & Emergency Red Flags
- Inability to provide a reliable DNA sample (e.g., severe hemolysis, recent allogeneic blood transfusion within 4 weeks, or bone marrow transplant).
- Patient or legal guardian unable to provide informed consent for genetic testing as per Federal Decree‑Law No. 4 of 2016 on Medical Liability and Federal Law No. 2 of 2019 Concerning the Use of ICT in Health Fields.
- Known history of allogeneic bone marrow transplant that could confound germline DNA analysis (alternative tissue may be required).
- Emergency Red Flags: Sudden worsening of spasticity, falls with head injury, acute psychosis, or rapid loss of mobility – seek immediate emergency care; these findings require urgent neurological assessment independent of genetic testing.
Patient FAQ & Clinical Guidance
1. What is the ERLIN2 SPG18 Genetic Test and why might I need it?
The ERLIN2 SPG18 Genetic Test identifies mutations in the ERLIN2 gene that cause hereditary spastic paraplegia type 18 (SPG18). This test is recommended when you or your child has unexplained progressive stiffness and weakness in the legs that often begins in childhood or early adulthood, along with signs of upper motor neuron involvement. A definitive molecular diagnosis helps guide prognosis, informs family planning, and enables targeted genetic counselling for at‑risk family members.
2. How accurate is the ERLIN2 NGS test and what sample is needed?
Our NGS method achieves analytical sensitivity exceeding 99.9% across the entire ERLIN2 coding region, splice sites, and known deep intronic mutations. The test requires a simple blood sample (3–5 mL whole blood in an EDTA tube) or a buccal swab collected on an FTA card. Our VIP Mobile Phlebotomy service can collect the sample at your home or office between 8 AM and 11 PM, seven days a week, across the UAE.
3. How will I receive my results and what happens afterwards?
You will receive a comprehensive, confidential report within 3 to 4 weeks. The report lists all detected variants, their clinical significance, and recommendations for genetic counselling. Our DHA‑licensed Consultant Medical Geneticist will contact you by phone to explain the findings – whether a pathogenic mutation, a variant of uncertain significance, or a negative result – and discuss next steps, including family screening and referral to a neurologist or geneticist. Results are also accessible through our secure patient portal.
UAE Regulatory & Data Privacy Adherence
All genetic data processing and storage comply 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. Your samples and genomic information are handled under strict confidentiality controls, with encryption at rest and in transit. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and operates under the oversight of the Dubai Health Authority (DHA Facility License No. 1143). Informed consent for genetic testing is obtained in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | ERLIN2 Gene (SPG18) Next‑Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Buccal Swab (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina platform, >50× mean coverage |
| ICD-10-CM Code | G11.4 |
| LOINC Code | 101289-4 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. ISO 9001:2015 Certified (INT/EGQ/2509DA/3139). |
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