Test Price
2,800 AED✅ Home Collection Available
PIGL Gene CHIME Syndrome Genetic Test in UAE
Executive Summary & Core Metrics
Executive Summary: The PIGL gene NGS test is a definitive molecular diagnostic tool for CHIME syndrome (Coloboma, Heart defects, Ichthyosiform dermatosis, Mental retardation, Ear anomalies). Conducted via Next‑Generation Sequencing (NGS) with 99.9% diagnostic sensitivity, this test is processed through our ISO‑certified laboratory. The assay includes copy number variant detection and Sanger confirmation of pathogenic variants, enabling precise diagnosis and informed family counseling.
- Price (AED): 2,800
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Whole Blood, Extracted DNA, or FTA Card Blood Spot
- Methodology: Next‑Generation Sequencing (NGS) + Sanger confirmation
- Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM – 11 PM)
Test Overview & Methodology
The PIGL gene test analyzes the entire coding region of the PIGL gene using Next‑Generation Sequencing (NGS) to identify pathogenic variants responsible for CHIME syndrome, a rare neuroectodermal disorder. Our DHA‑licensed phlebotomists collect peripheral blood samples at your home, office, or any preferred location across all seven emirates, using a certified cold‑chain transport system that preserves sample integrity.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | Full‑gene NGS with copy number variant detection | Limited hotspot panel |
| Methodology | Illumina NGS + Sanger confirmation | Sanger sequencing only |
| Turnaround | Reliable 3–4 weeks with dedicated case manager | 6–8 weeks |
| Post‑Test Support | Included telephonic clinical guidance & genetic counselling | Report only |
Physician Insight & Safety Protocols
“A positive PIGL mutation confirms the clinical suspicion of CHIME syndrome and enables early multidisciplinary intervention for cardiac, ophthalmologic, and developmental challenges. However, a negative result does not exclude other dysmorphology syndromes; always correlate with phenotype and family history. Pre‑test genetic counselling and informed consent are mandatory.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Pre‑Test Advisory
Do not discontinue any prescribed medications without consulting your doctor. This test does not replace ongoing medical management. A pre‑test genetic counselling session is required to discuss the implications of results, including potential findings of uncertain significance and cascade testing for family members.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or acute infection requiring urgent care.
- Recent blood transfusion (within 2 weeks) that may interfere with DNA extraction.
- Individuals unable to provide informed consent without a legal guardian (per UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability).
- Seek immediate emergency care if the patient experiences seizures, cyanosis, or acute cardiac symptoms unrelated to the collection process.
Patient FAQ & Clinical Guidance
1. What is the PIGL gene CHIME syndrome test and who should consider it?
The PIGL gene NGS test is a next‑generation sequencing analysis that detects disease‑causing variants in the PIGL gene, confirming a diagnosis of CHIME syndrome in patients with suggestive dysmorphic features, congenital heart disease, and skin anomalies. It is indicated for infants, children, and adults with a clinical suspicion of CHIME syndrome or for family members of a confirmed proband.
2. How is the sample collected and is home collection available in the UAE?
Our DHA‑licensed phlebotomists perform a painless blood draw at your home, office, or any preferred location across all seven emirates between 8 AM and 11 PM, using a cold‑chain transport system that preserves sample integrity until it reaches our ISO‑certified laboratory. Extracted DNA or FTA card blood spots are also accepted.
3. What does a positive result mean and what are the next steps?
A positive report identifies a pathogenic or likely pathogenic variant in PIGL, allowing your referring pediatrician or clinical geneticist to coordinate multidisciplinary care with cardiology, dermatology, ophthalmology, and developmental specialists, and to offer cascade family testing. Our telephonic post‑test clinical guidance is included in the service.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Laboratory operates under DHA Facility License No. 1143.
- All clinical data handling complies 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.
- Patient consent and medical liability procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certified Quality Management System (Certificate: INT/EGQ/2509DA/3139).
- Pre‑test genetic counselling session is mandatory and includes pedigree charting per DHA/MOHAP standards.
- For insurance verification and appointments: WhatsApp +971 54 548 8731
Clinical & Logistical Metadata
| Test Name | PIGL Gene Sequencing for CHIME Syndrome |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Calendar Days |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 48004-6 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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