Test Price
2,800 AED✅ Home Collection Available
PIGN Gene Sequencing (NGS) – Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 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
The PIGN gene sequencing test is a comprehensive NGS-based assay that detects pathogenic variants in the PIGN gene, confirming a diagnosis of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 (MCAHS1), a rare GPI-anchor biosynthesis disorder. This test uses next-generation sequencing to provide complete exon coverage, enabling the identification of single nucleotide variants, insertions, deletions, and copy number variants relevant to the phenotype. Pre-test genetic counseling is mandatory to document clinical history and family pedigree.
| Feature | Our Test (PIGN NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Analytical Sensitivity | >99.9% (NGS with complete exon coverage) | ~95% (limited to targeted exons) |
| Methodology | Next-Generation Sequencing (NGS) – Illumina platform, full gene analysis | Sanger sequencing – often stepwise, slower |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Clinical Reporting | DHA-compliant, includes variant classification (ACMG) and genetic counseling support | Often limited interpretation |
| Sample Types | Whole blood, extracted DNA, or FTA card (dried blood spot) | Usually blood only |
Physician Insight & Safety Protocols
“As a clinical geneticist, I emphasize that the PIGN gene test is not a standalone diagnostic tool but a critical component of a comprehensive evaluation for children presenting with hypotonia, seizures, and dysmorphic features. The results must always be integrated with clinical findings, developmental history, and family pedigree. A negative result does not rule out the syndrome; clinical surveillance remains paramount. The test requires informed consent and pre-test counseling to ensure families understand the implications for both the child and potential reproductive risks.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or alter any prescribed anticonvulsant or other medications without consulting your treating physician. Genetic testing does not replace acute clinical management. Continue all current therapies until your doctor advises otherwise.
Exclusion Criteria & Emergency Red Flags
- Not suitable for individuals without a clinical indication or who cannot provide informed consent (parental/guardian consent mandatory for minors under Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Test should be postponed during acute febrile illness or recent blood transfusion (may affect DNA quality).
- Red Flags: If the patient experiences sudden worsening of seizures, difficulty breathing, or loss of consciousness, seek immediate emergency care at the nearest hospital. Do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the clinical purpose of the PIGN gene test?
The PIGN gene test diagnoses Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome type 1 by identifying pathogenic variants in the PIGN gene. This test is used to confirm a suspected diagnosis in infants and children presenting with hypotonia, seizures, and dysmorphic features, enabling targeted medical management and genetic counseling for the family.
2. How is the sample collected and is home service available?
A blood sample, extracted DNA, or a few drops on an FTA card can be collected via our VIP mobile phlebotomy service at your home, office, or hospital. Our team follows strict temperature-controlled cold-chain protocols to ensure sample integrity. A genetic counseling session prior to collection is required to document the clinical history and family pedigree.
3. What is the turnaround time for the PIGN NGS test?
Results are typically available within 3 to 4 weeks from receipt of the sample at our ISO-certified laboratory. Complex variants may require additional confirmatory testing, and your ordering physician will be notified of any delay. A telephonic post-test consultation is included to help interpret the findings.
UAE Regulatory & Data Privacy Adherence
Data Protection & Confidentiality: All genetic data is processed 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. Results are encrypted, stored in secure servers, and accessible only to authorized healthcare providers with patient consent.
Accreditation & Licensing: The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and is licensed by the Dubai Health Authority (DHA Facility License 1143). All clinical genetic testing adheres to DHA standards and international best practices.
Patient Rights: You have the right to request access to your genetic data, withdraw consent at any time, and lodge a complaint with the UAE Data Protection Office if you believe your data has been mishandled.
Clinical & Logistical Metadata
| Test Name | PIGN Gene Sequencing (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card (dried blood spot) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform, full gene analysis |
| ICD-10-CM Code | E77.8, Q87.0, G40.909 |
| LOINC Code | 81793-9 |
| DHA Facility License & Laboratory Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Lab: DNA Labs 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