Test Price
2,800 AED✅ Home Collection Available
PFN1 Gene Sequencing for Amyotrophic Lateral Sclerosis Type 18 (ALS18) – NGS
Executive Summary & Core Metrics
This advanced NGS genetic analysis is offered by DNA Labs UAE for residents of the UAE, delivering diagnostic sensitivity of 99.9% through ISO-accredited laboratory processing. The service includes premium VIP mobile phlebotomy and temperature-controlled cold-chain home collection, professional genetic counseling, and direct insurance verification.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection — Available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the PFN1 gene to diagnose Amyotrophic Lateral Sclerosis Type 18, a rare autosomal dominant motor neuron disorder, with a turnaround of 3–4 weeks at 2800 AED.
| Feature | Our Test (ALS18 NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Precision | Full gene coverage with >99% sensitivity for SNVs, indels | Targeted exon analysis only, may miss deep intronic mutations |
| Methodology | Illumina NovaSeq 6000, bioinformatics ACMG variant interpretation | Sanger sequencing, manual curation |
| Turnaround Speed | 3 to 4 weeks | 6 to 8 weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh — Consultant Medical Genetics (DHA Registration ID: 9294403) notes: “A positive PFN1 mutation confirms susceptibility to ALS18 but does not equate to disease onset; a negative result does not exclude other ALS variants. This genetic information should be interpreted alongside a detailed clinical phenotype and family history. Use this knowledge to empower patients toward proactive care and informed decision-making.”
Advisory – Medication Safety
Important Precautions
Do not discontinue any prescribed medication without consulting your doctor. This test does not replace ongoing clinical management or treatment decisions.
Exclusion Criteria
- Inability to provide a blood or DNA sample (e.g., severe anemia at draw site, inaccessible veins).
- Lack of signed informed consent for genetic testing.
- Unstable medical condition that precludes venipuncture.
Emergency Warning Signs
Seek Immediate Medical Attention
- New onset of slurred speech, difficulty swallowing, or choking.
- Progressive limb weakness leading to falls or loss of ambulation.
- Shortness of breath or respiratory distress – possible diaphragm involvement.
Patient FAQ & Clinical Guidance
1. What is the PFN1 ALS18 genetic test?
This next-generation sequencing (NGS) test analyzes the entire PFN1 gene for mutations linked to Amyotrophic Lateral Sclerosis type 18. It enables early diagnosis, family risk assessment, and personalized neurological surveillance.
2. Who should consider testing for PFN1 ALS18?
Individuals with a family history of motor neuron disease, unexplained progressive muscle weakness, or a known PFN1 mutation in relatives should consult a neurologist for testing candidacy.
3. How should I prepare and what is the process?
No fasting is required. Simply schedule your home collection or clinic visit with your clinical history and a prior genetic counseling record. A 4 mL EDTA blood sample will be drawn and transported under cold chain to our ISO-accredited lab.
4. What does a positive result mean?
A pathogenic variant in the PFN1 gene confirms a genetic predisposition to ALS18. This result should be interpreted by a medical geneticist and used to guide surveillance and family planning.
5. How long does it take to get results?
The standard turnaround time is 3–4 weeks from sample receipt. Urgent requests may be expedited upon consultation.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and adheres to UAE federal laws governing health data and personal privacy.
- Personal Data Protection: All patient data is handled in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Security: Electronic health records and genetic data are protected according to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety: Patient consent and medical liability are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and follows international standards for genetic testing and data security.
Clinical & Logistical Metadata
| Test Name | PFN1 Gene Sequencing for ALS18 (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (routine) |
| Sample Type / Matrix | Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM) |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq 6000) with bioinformatics analysis and ACMG variant interpretation |
| ICD-10-CM Code | G12.21 |
| LOINC Code | 21612-4 |
| DHA Facility License & Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians