Test Price
2,800 AED✅ Home Collection Available
ASAH1 Gene Sequencing for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) in UAE | 2,800 AED
Executive Summary & Core Metrics
Core Metrics & Service Highlights
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity achieved through ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited NGS processing.
- Price (AED): 2,800 | Turnaround Time: 3–4 Weeks
- 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 for expert result interpretation, led by DHA-licensed specialists.
- Insurance: Direct Billing Verification & Pre-approval Support via WhatsApp at +971 54 548 8731.
- Corporate Lab Branding: DNA Labs UAE.
Test Overview & Methodology
The ASAH1 gene sequencing test is a next-generation sequencing (NGS) assay that detects pathogenic variants linked to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare neurogenetic disorder. This single-gene analysis offers a focused, cost-effective alternative to broad panel or exome sequencing for patients presenting with hallmark symptoms of myoclonus and motor regression.
| Feature | Our ASAH1 NGS Test | Closest Alternative (Research-Grade Exome) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity & specificity for ASAH1 variants | Variable; incidental findings common |
| Methodology | NGS, full gene sequencing with CNV analysis | Whole exome sequencing (WES) without focused ASAH1 coverage |
| Turnaround Time | 3–4 weeks | 8–12 weeks or longer |
| Price (AED) | 2,800 | 5,000–8,000 (research only) |
| Regulatory Clearance | DHA/MOHAP-compliant, ISO 9001:2015 | Often not clinically accredited |
Physician Insight & Safety Protocols
"This single-gene sequencing test provides a definitive molecular diagnosis for SMA-PME, a rare but severe neurogenetic disorder. Results must be carefully integrated with the patient's full clinical picture, including neurological examination, EEG findings, and neuroimaging. I strongly advocate for comprehensive pre- and post-test genetic counseling to ensure patients and families fully understand the implications of the results."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Therapeutic Precautions
Do not discontinue prescribed antiepileptic or myorelaxant medication without consulting your physician. Abrupt cessation may precipitate status epilepticus, respiratory compromise, or severe withdrawal symptoms. All medication adjustments must be guided by a neurologist experienced in managing SMA-PME.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active, untreated seizure clusters requiring emergency intervention; severe cardiorespiratory instability; inability to provide informed consent (for minors, legal guardian consent mandated per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- ER Red Flags: Sudden increase in seizure frequency with loss of consciousness lasting more than five minutes, respiratory distress, aspiration pneumonitis, or signs of status epilepticus – immediate emergency care is required.
- Home Collection Restriction: Patients with an ongoing febrile illness or acute neurological exacerbation should defer home phlebotomy until their clinical condition stabilizes.
Patient FAQ & Clinical Guidance
1. What exactly does the ASAH1 gene test diagnose, and how accurate is it?
This NGS-based test detects pathogenic mutations in the ASAH1 gene, confirming spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) with 99.9% diagnostic sensitivity. It differentiates SMA-PME from other causes of myoclonus or motor regression, providing a definitive genetic diagnosis when clinical criteria are met. Results are interpreted according to ACMG guidelines to ensure clinical relevance and actionability.
2. What sample is required for the ASAH1 gene test, and how is it collected?
A standard venipuncture whole blood sample collected in an EDTA tube, a dried blood spot on an FTA card, or previously extracted high-quality DNA is accepted. Our DHA-licensed phlebotomists can visit your home between 8 AM and 11 PM with an ISO-certified cold chain transport kit, ensuring complete sample stability from the point of collection to the laboratory. For infants or children, a simple heel-prick or FTA card method is used, requiring only a few drops of blood.
3. Why is genetic counseling strongly recommended with this test?
Genetic counseling is an essential component of the testing process. It helps individuals and families understand the mode of inheritance, the implications of positive or negative results, and the risks for other family members. A negative result does not rule out all genetic causes, and a positive result requires careful clinical correlation. Our expert genetic counselors provide a detailed explanation of your results and guide you on appropriate next steps for management and family planning.
UAE Regulatory & Data Privacy Adherence
Regulatory & Data Privacy Framework
This service is fully compliant 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 clinical safety protocols and patient consent procedures strictly adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory processes are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ASAH1 Gene Sequencing for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with Copy Number Variation (CNV) Analysis |
| ICD-10-CM Code | G12.1, G40.3 |
| LOINC Code | 81260-9 |
| DHA Facility License & Laboratory Address | License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians