Test Price
2,800 AED✅ Home Collection Available
PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Diagnostic Precision: 99.9% diagnostic sensitivity achieved via Next-Generation Sequencing (NGS) in an ISO 9001:2015 accredited laboratory.
Patient-Centric Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Post-Test Guidance: Dedicated genetic counseling session with Consultant Medical Geneticist Lina Osama Zaki Quteineh to correlate results with clinical presentation.
Insurance Facilitation: Direct coverage verification via WhatsApp at +971 54 548 8731 prior to sample collection.
Test Overview & Methodology
This comprehensive Next-Generation Sequencing (NGS) assay analyzes the entire coding region of the PIGT gene to detect pathogenic variants associated with Multiple Congenital Anomalies–Hypotonia–Seizures Syndrome Type 3 (MCAHS3). The test is validated for whole blood, extracted DNA, and dried blood spot (FTA card) specimens, delivering a definitive molecular diagnosis within 3–4 weeks to guide neurologists, pediatricians, and medical geneticists in personalized patient management.
| Feature | Our Test (Premium NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; detects SNVs, indels, and copy‑number variants | >99% per base, but may miss large rearrangements |
| Methodology | Full gene NGS with MLPA confirmatory backup; ISO 9001:2015 validated | Sanger sequencing of individual exons |
| Turnaround Time | 3–4 weeks | 4–6 weeks (if multiple exons needed) |
Physician Insight & Safety Protocols
Ms. Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403):
“A molecular diagnosis of MCAHS3 provides the foundation for targeted neuro-palliative care, anti-epileptic selection, and family recurrence risk assessment. Integrating this NGS result with clinical evaluation allows us to transform a complex syndromic presentation into a structured, actionable management plan.”
Medication & Clinical Advisory
Critical Warning: Do not discontinue or adjust any prescribed antiepileptic, sedative, or neuromuscular medication without consulting your treating neurologist. Abrupt changes can provoke life-threatening seizure exacerbation or status epilepticus. Always correlate genetic findings with current therapeutic regimens before making clinical decisions.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or systemic infection within the past 48 hours (sample collection should be deferred).
- History of severe needle phobia accompanied by vasovagal syncope (requires monitored VIP home draw).
- If the patient has experienced a prolonged seizure (>5 minutes) or loss of consciousness within the last 24 hours, proceed immediately to the nearest emergency department; blood draw can be deferred.
- Unstable cardiac or respiratory status necessitates hospital-based sampling only; home collection is contraindicated.
Patient FAQ & Clinical Guidance
1. What specific genetic information does this test provide, and how long are the results considered valid?
This test identifies pathogenic variants within the complete coding sequence of the PIGT gene, confirming a diagnosis of MCAHS3 and enabling accurate prognosis and recurrence risk counseling for families. Genomic results are considered clinically valid for the patient's lifetime, although variant classifications may be updated as new scientific evidence emerges.
2. Can a dried blood spot on an FTA card be used instead of a standard blood draw?
Yes. A properly collected dried blood spot on a DNA-stable FTA card is a fully validated sample type for PIGT NGS analysis. To prevent contamination and ensure sample integrity, we strongly recommend collection under the direct supervision of our experienced mobile phlebotomy team.
3. How does DNA Labs UAE ensure insurance coverage and genomic data privacy?
We proactively verify your insurance coverage directly with your provider via WhatsApp (+971 54 548 8731) before any sample collection or financial obligation. All genomic sequences and personal data are encrypted and stored in compliance 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.
UAE Regulatory & Data Privacy Adherence
Secure & Compliant Operations: DNA Labs UAE strictly adheres to the legal frameworks established by the UAE. All diagnostic procedures and patient data handling are conducted in full compliance 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. Clinical safety protocols and patient consent procedures are rigorously aligned with Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring the highest standards of care and legal protection for every patient.
Clinical & Logistical Metadata
| Test Name | PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA Confirmation |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 94222-7 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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