Test Price
2,800 AED✅ Home Collection Available
GLI3 Gene Pallister-Hall Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Test Overview & Methodology
The GLI3 Pallister-Hall Syndrome Genetic Test employs next-generation sequencing (NGS) to detect pathogenic and likely pathogenic variants across the full coding region and flanking intronic boundaries of the GLI3 gene. The assay is validated for whole blood, extracted DNA, and dried blood spot specimens, providing a definitive molecular diagnosis for individuals with clinical features such as central polydactyly, hypothalamic hamartoma, and bifid epiglottis. Results guide clinical management, surveillance, and familial cascade testing.
| Feature | Our NGS Test | Alternative (Sanger Sequencing) |
|---|---|---|
| Analytical Precision | >99.9% sensitivity and specificity across all coding exons | ~99% for targeted exons; misses deep intronic and mosaic variants |
| Methodology | Next Generation Sequencing (NGS) – Illumina platform | Sanger sequencing (single-exon capillary electrophoresis) |
| Turnaround Time | 3–4 Weeks (21–28 business days) | 4–6 Weeks (28–42 business days) |
| Gene Coverage | Full coding region ± 20 bp flanking intronic regions | Selected exons only; no intronic coverage |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasize that the decision to pursue GLI3 germline testing carries profound implications for patients and their families. This NGS-based assay delivers high-confidence variant detection, yet every result must be correlated with the complete clinical phenotype and three-generation pedigree. A pathogenic variant confirms Pallister-Hall syndrome, but a negative result does not exclude the diagnosis—other genetic or epigenetic mechanisms may be at play. Our integrated post-test counseling framework ensures that each patient receives personalized guidance tailored to their variant classification and family context.”
Medication Advisory
Do not discontinue, adjust, or initiate any prescribed medication—including hormonal therapies, anticonvulsants, or growth hormone—without direct consultation with your treating physician. Genetic test results may inform but never replace clinical judgment regarding medication management.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Individuals without a validated clinical suspicion of Pallister-Hall syndrome or a documented family history of GLI3-related disorders; inability to provide informed consent (legal guardian consent mandatory for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Exclusion Criteria: Recent allogeneic blood transfusion (within 14 days) may compromise germline DNA analysis from whole blood; a buccal swab or extracted DNA from pre-transfusion archive is recommended.
- Emergency Red Flags (seek immediate medical attention): New-onset seizures, sudden severe headache with vomiting, acute visual disturbances, signs of adrenal crisis (e.g., profound hypotension, hyponatremia, hyperkalemia), or unexplained altered consciousness.
Patient FAQ & Clinical Guidance
1. What is the GLI3 Pallister-Hall Syndrome Genetic Test?
This test analyzes the entire coding sequence and flanking intronic regions of the GLI3 gene using next-generation sequencing to identify disease-causing variants. It confirms the molecular diagnosis in individuals with clinical features of Pallister-Hall syndrome, such as central polydactyly, hypothalamic hamartoma, and bifid epiglottis. Results guide clinical management, tumor surveillance (e.g., for hypothalamic hamartoma-related complications), and familial risk counseling. The test is performed at DNA Labs UAE under DHA license 1143.
2. How should I prepare for this genetic test?
No fasting or special dietary preparation is required. A mandatory pre-test genetic counseling session is conducted to construct a three-generation pedigree and document affected family members. A clinical history form must be completed by your referring physician. For minors, legal guardian consent and supporting documentation per Federal Decree-Law No. 4 of 2016 on Medical Liability are compulsory. Our mobile phlebotomist will coordinate a convenient appointment for home collection between 8 AM and 11 PM.
3. What do my results mean and what are the next steps?
A positive result identifies a pathogenic or likely pathogenic GLI3 variant, confirming a molecular diagnosis of Pallister-Hall syndrome and enabling targeted surveillance and family testing. A negative result reduces the likelihood of GLI3-related disease but does not exclude alternative genetic diagnoses—further testing such as whole-exome sequencing may be considered. Telephonic post-test guidance with a genetic counselor is included to review variant classification, discuss implications for at-risk relatives, and coordinate specialist follow-up care with your managing physician.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: All genetic data are processed 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. Patient records are encrypted, access-controlled, and never shared with third parties without explicit written consent.
Clinical Safety: Sample collection, handling, and reporting adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every procedure meets the highest standards of patient safety and professional accountability.
Clinical & Logistical Metadata
| Test Name | GLI3 Gene Pallister-Hall Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (21–28 Business Days) |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Dried Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Sequencing |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 82939-0 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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