Test Price
2,800 AED✅ Home Collection Available
PIGN Gene Sequencing (NGS) – Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PIGN (متلازمة التشوهات الخلقية المتعددة – نقص التوتر – النوبات من النوع الأول) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي
اختبار تحليل جين PIGN بتقنية التسلسل الجيني من الجيل التالي (NGS)، بدقة تشخيصية تصل إلى 99.9% بفضل معالجة معتمدة من ISO 9001:2015. يشمل الخدمة السحب المنزلي المعتمد بمواصفات دولية والتوجيه الإكلينيكي بعد النتيجة، مع إمكانية التحقق المباشر من التغطية التأمينية.
Overview
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. هذا التحليل الجيني ضروري لتأكيد متلازمة التشوهات الخلقية المتعددة – نقص التوتر – النوبات من النوع الأول.
| 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 Protocol
“As a clinician, I understand the uncertainty that comes with a suspected rare genetic syndrome. This test is not just a laboratory investigation—it is a gateway to precise management, anticipatory guidance, and family planning. Always interpret the results alongside the patient’s full clinical picture and never rely on genetic data in isolation. A non-diagnostic result does not exclude the condition; clinical follow-up remains paramount.”
– Dr. Prabhakar Reddy, DHA License 61713011
⚠️ Medication Warning: Do not discontinue any prescribed medication (especially anticonvulsants) without consulting your treating physician. Genetic testing does not replace acute clinical management.
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 UAE CDS Law 2026).
- 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.
Frequently Asked Questions
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.
يُستخدم هذا الاختبار لتأكيد تشخيص متلازمة التشوهات الخلقية المتعددة – نقص التوتر – النوبات من النوع الأول عبر اكتشاف الطفرات الممرضة في جين PIGN.
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 cold-chain protocols to ensure sample integrity. A genetic counseling session prior to collection is required to document the clinical history and family pedigree.
يمكن جمع العينة من خلال خدمة السحب المنزلي المتنقل لكبار الشخصيات، مع الالتزام ببروتوكولات سلسلة التبريد لضمان سلامة العينة.
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.
تظهر النتائج عادةً في غضون 3 إلى 4 أسابيع من استلام العينة في مختبرنا المعتمد من ISO، مع استشارة هاتفية بعد الاختبار لتفسير النتائج.
Pre- Requirements
- Detailed clinical history of the patient, including seizure semiology, developmental milestones, and family history.
- Mandatory genetic counseling session to construct a three-generation pedigree chart, identify affected relatives, and obtain informed consent.
- No fasting required for blood draw; however, if an FTA card is used, ensure the card is not contaminated.
UAE Regulatory Compliance & Quality Assurance
- Compliant with Federal Decree-Law No. 41 of 2024 (Art. 87) on genetic testing and the confidentiality of health data.
- Strict adherence to UAE Child Protection Law (CDS Law 2026) for minor patients – mandatory parental/legal guardian consent.
- Data processed under UAE Personal Data Protection Law (PDPL) with encrypted storage and restricted access.
- Laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and DHA facility license 9834453.
- 2026 clinical coding: ICD-10-CM E77.8 (disorders of glycoprotein metabolism), Q87.0 (congenital malformation syndromes predominantly affecting facial appearance), G40.909 (epilepsy, unspecified). LOINC: 81793-9.
Relevant Specialists: Pediatricians, Neurologists, Neonatologists.
Support: WhatsApp & Phone: +971 54 548 8731
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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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.
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