Test Price
2,800 AEDโ Home Collection Available
LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
The LAMA1 NGS test is the most accurate method for confirming Poretti-Boltshauser syndrome, achieving 99.9% diagnostic sensitivity. Our ISO 9001:2015 accredited laboratory processes all coding exons and splice junctions.
- โ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing โ NGS covers all coding exons and splice junctions.
- โ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- โ Clinical Guidance: Telephonic Post-Test Clinical Guidance by a DHA-licensed genetic counselor to interpret variant pathogenicity and discuss next steps.
- โ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 โ instant eligibility check for all major UAE providers.
Test Overview & Methodology
The LAMA1 NGS test detects pathogenic variants in the LAMA1 gene responsible for Poretti-Boltshauser syndrome, a congenital cerebellar dysplasia with retinal dystrophy. Our test uses Next-Generation Sequencing to analyze all coding regions and splice junctions, providing a definitive molecular diagnosis in 3โ4 weeks.
| Parameter | Our Test (DNA Labs UAE) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity/specificity for SNVs and small indels | High for targeted exons, may miss deep intronic variants |
| Method | NGS with full gene coverage, CNV detection | Sanger sequencing of individual exons, no CNV |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks (if performed exon-by-exon) |
| Sample Collection | Home blood draw, FTA card, or extracted DNA | Hospital/lab visit often required |
Physician Insight & Safety Protocols
โAs a clinical geneticist, I understand the emotional weight of a potential syndromic diagnosis. A positive LAMA1 result can be overwhelming, but it is the first crucial step toward tailored early intervention, surveillance for retinal and neurological complications, and informed family planning. Always interpret this result within the full clinical and radiological context.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Warning & Safety Notice
Do not discontinue prescribed medication without consulting your doctor. This test is not a substitute for acute clinical assessment.
Exclusion Criteria & Emergency Red Flags
- Sample Rejection: Blood collected in wrong tube type, sample received at ambient temperature >48 hours, or insufficient volume. FTA cards must be fully dried before shipping.
- Patient Condition: Recent (within 2 weeks) blood transfusion or bone marrow transplant may invalidate germline DNA analysis.
- ER Red Flags: If the patient develops acute neurological decline, seizures, or signs of increased intracranial pressure, seek emergency care immediatelyโdo not wait for genetic test results.
- Genetic Counselling is Mandatory: Pre-test consent requires documentation of a three-generation pedigree; results must be disclosed in a professional genetic counselling setting per Federal Decree-Law No. 4 of 2016 on Medical Liability for minors.
Patient FAQ & Clinical Guidance
1. How accurate is the LAMA1 NGS test for diagnosing Poretti-Boltshauser syndrome?
Our NGS panel achieves 99.9% diagnostic sensitivity for single nucleotide variants and small insertions/deletions across the entire LAMA1 coding region, outperforming older single-exon methods. This comprehensive analysis reduces the need for multiple follow-up tests and delivers a definitive molecular diagnosis with a 3-4 week turnaround.
2. What preparation is required before the blood draw?
No fasting or medication adjustments are normally needed. However, you must provide a complete clinical history and inform the collection team of any recent blood transfusions or immunosuppressive therapy, as these can interfere with DNA quality. A pre-test genetic counselling session is mandatory to draw the family pedigree.
3. Can the test be performed on infants? What are the legal requirements?
Testing is permitted for minors under UAE medical liability law (Federal Decree-Law No. 4 of 2016) with written parental consent after a full genetic counselling session. Heel-prick sampling is used for neonates, and all data is protected under the UAE Personal Data Protection Law (PDPL).
UAE Regulatory & Data Privacy Adherence
UAE Compliance & Data Privacy
This service is provided under DHA Facility License #1143 and adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is stored on encrypted servers within the UAE with no cross-border transfer without explicit consent. ISO 9001:2015 Certification: INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Blood or FTA Card (VIP Mobile Phlebotomy available) |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q04.8, H35.5 |
| LOINC Code | 50546-8 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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