Test Price
2,800 AED✅ Home Collection Available
PAFAH1B1 Gene Lissencephaly Type 1 (LIS1) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
This advanced genetic test provides superior diagnostic accuracy through next-generation sequencing of the PAFAH1B1 gene, enabling precise detection of pathogenic variants causing classic lissencephaly type 1. Certified processing under ISO 9001:2015 ensures 99.9% diagnostic sensitivity.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection – ISO Certified Cold-Chain & VIP Mobile Phlebotomy (8 AM–11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation by genetic specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PAFAH1B1 gene test detects pathogenic variants causing classic lissencephaly type 1, a severe brain malformation. Next‑Generation Sequencing (NGS) with full gene coverage and bioinformatics analysis provides single‑nucleotide and copy‑number variant detection with over 99.9% sensitivity.
| Feature | Our Test (NGS) | Closest Alternative (FISH/Karyotype) |
|---|---|---|
| Diagnostic Precision | Single‑nucleotide & copy‑number variants with >99.9% sensitivity | Large deletions only; sensitivity ~60–70% |
| Method | Next‑Generation Sequencing (NGS) with full gene coverage & bioinformatics | Fluorescence in‑situ hybridization (FISH) or conventional karyotyping |
| Turnaround Time | 3 to 4 weeks | 2 to 3 weeks |
| Detection Scope | Entire PAFAH1B1 gene, including deep intronic regions & ± regulatory sequences | Limited to probe‑specific deletions/duplications on 17p13.3 |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasize that PAFAH1B1 test results must be interpreted alongside neuroimaging and comprehensive clinical evaluation. A positive result confirms the molecular diagnosis and supports family counseling, while a negative result does not completely rule out the disorder if clinical suspicion remains high. Please consult your treating physician for an integrated care plan tailored to your child’s needs.” – Lina Osama Zaki Quteineh, DHA License No. 9294403.
Medication Advisory
Do not discontinue or alter any prescribed medication without consulting your doctor. This test is not a substitute for urgent neurological assessment.
Exclusion Criteria & ER Red Flags
- Exclusion: Patients under 13 years must have a legal guardian present; genetic counseling is mandatory.
- Exclusion: Unstable neonates requiring intensive care are not eligible for home collection; hospital‑based collection can be coordinated.
- Exclusion: This test is not a substitute for urgent neurological assessment.
- Red Flags: Sudden worsening of neurological symptoms, loss of consciousness, uncontrolled seizures, or severe feeding difficulties require immediate emergency medical attention.
- If you observe any of the above prior to or after sample collection, contact your nearest hospital emergency department immediately.
Patient FAQ & Clinical Guidance
1. What is the PAFAH1B1 Lissencephaly Type 1 NGS test?
This test uses Next‑Generation Sequencing to analyze the entire PAFAH1B1 gene, detecting mutations responsible for classic lissencephaly with over 99.9% diagnostic sensitivity. It is essential for confirming the diagnosis in individuals with brain malformations or a family history of the condition.
2. Who should consider getting tested?
Children with unexplained severe developmental delay, infantile spasms, or brain imaging showing lissencephaly should undergo PAFAH1B1 testing as a first‑line investigation. Expectant parents with a known family history may also benefit from targeted prenatal screening after genetic counseling.
3. How should I prepare for the test?
No fasting or special preparation is required; a blood sample, extracted DNA, or a dried blood spot on an FTA card can be collected. A pre‑genetic counseling session is mandatory to discuss the clinical history and draw a family pedigree.
4. What is the turnaround time and how are results delivered?
Results are typically available within 3 to 4 weeks. You will receive a comprehensive report via secure email or patient portal, followed by a telephonic consultation with a genetic specialist to explain the findings and next steps.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed in an ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139) and strictly adheres to 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. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | PAFAH1B1 Gene Lissencephaly Type 1 (LIS1) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) with full gene coverage and bioinformatics analysis |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 89820-2 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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ISMS 27001:2022
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