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Test Price

2,800 AED

✅ Home Collection Available

GLI2 Gene Holoprosencephaly Type 9 Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

Diagnostic Accuracy

99.9% clinical sensitivity and specificity for GLI2 pathogenic variants via ISO 9001:2015 certified NGS with orthogonal Sanger confirmation.

Logistics & Collection

VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all UAE emirates.

Post-Test Clinical Guidance

Complimentary tele-consultation with a DHA-licensed Consultant Medical Geneticist for result interpretation and family counseling.

Insurance & Billing

Direct billing verification via WhatsApp +971 54 548 8731 with instant pre-authorization confirmation.

Test Overview & Methodology

The GLI2 Gene Holoprosencephaly Type 9 Genetic Test is a single-gene sequencing assay designed to detect pathogenic single-nucleotide variants and small insertions/deletions in the GLI2 gene. Pathogenic variants in GLI2 cause holoprosencephaly type 9, a severe midline brain malformation spectrum disorder frequently identified in dysmorphology and neonatal neurology evaluations. The assay employs high-coverage next-generation sequencing (NGS) with confirmatory Sanger sequencing to guarantee diagnostic precision under DHA-mandated quality standards.

Test Comparison: GLI2 NGS vs. Multi-Gene Panel

Feature GLI2 NGS (This Test) Holoprosencephaly Panel NGS
Clinical Sensitivity 99.9% for GLI2 variants Moderate; multi-gene but lower per-gene depth
Methodology NGS + mandatory Sanger confirmation Panel NGS only; no per-gene orthogonal validation
Turnaround Time 3–4 Weeks 6–8 Weeks
Cost (AED) 2,800 ≈4,500

Physician Insight & Safety Protocols

“Interpreting a potential holoprosencephaly diagnosis requires both molecular precision and compassionate communication. This GLI2-targeted test provides an unambiguous genetic answer that directly informs neurosurgical timing, endocrine surveillance, and recurrence risk counseling for the entire family. Our responsibility is to deliver that answer accurately and with clear, actionable guidance.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory & Patient Preparation

  • A mandatory pre-test genetic counseling session with a qualified practitioner is required before sample collection.
  • A detailed clinical history including family pedigree and prior imaging reports must accompany the test requisition.
  • Medication Notice: Do not alter or discontinue any prescribed therapy without consulting the treating physician. This genetic test does not replace acute medical management.

Exclusion Criteria & Emergency Indicators

  • Exclusion criteria: severe hemodynamic instability contraindicating safe blood draw; active febrile illness (defer until afebrile for 24 hours); inability to provide informed consent (for minors, legal guardian consent is mandatory).
  • Emergency red flags: rapid increase in head circumference, bulging fontanelle, projectile vomiting, new-onset seizures, or irregular breathing patterns warrant immediate emergency department evaluation for possible raised intracranial pressure.
  • Informed consent: All procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring fully documented patient or guardian consent prior to testing.

Patient FAQ & Clinical Guidance

1. What exactly does the GLI2 gene test detect?

Short answer: The test identifies pathogenic mutations in the GLI2 gene that cause holoprosencephaly type 9, a severe congenital midline brain malformation.

It detects single-nucleotide variants and small indels within the GLI2 coding region and splice sites. Results are interpreted by a Consultant Medical Geneticist who correlates the genetic finding with the child’s clinical phenotype to guide neurosurgical planning, endocrine workup, and family recurrence risk assessment.

2. How is the sample collected in the UAE?

Short answer: A blood sample is collected via gentle venipuncture or heel-prick onto a DNA-preserving FTA card during a scheduled home visit — no hospital visit required.

Our DHA-accredited mobile phlebotomists operate daily from 8 AM to 11 PM using temperature-controlled cold-chain transport. For infants, a painless heel-prick onto a specialized FTA card is used; for older children and adults, a standard venipuncture whole blood sample is collected. Previously extracted DNA can also be accepted if stored appropriately.

3. What do the results mean for my child’s long-term health?

Short answer: A positive result confirms a genetic etiology, enabling early, targeted interventions including neurosurgery, endocrine monitoring, and specialized developmental support.

A pathogenic variant in GLI2 helps the care team anticipate associated conditions such as pituitary hormone deficiencies, cleft lip/palate, and hypotelorism, and to time surgical repairs optimally. A negative result does not exclude all genetic causes; additional testing options can be discussed during the complimentary post-test tele-consultation. Every report includes a direct discussion with the geneticist to explain implications and coordinate next steps.

UAE Regulatory & Data Privacy Adherence

  • All patient data processed in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — encrypted in transit and at rest, stored on UAE-local secure servers.
  • Health information handling adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure digital health records management.
  • Clinical testing and patient consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing fully documented informed consent for all genetic analyses.
  • ISO 9001:2015 certified laboratory — Certificate INT/EGQ/2509DA/3139, with DHA Facility License 1143.

Clinical & Logistical Metadata

Test Name GLI2 Gene Holoprosencephaly Type 9 Genetic Test (NGS + Sanger Confirmation)
Price (AED) 2,800
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral whole blood (venipuncture or heel-prick FTA card); or previously extracted DNA
Methodology Used Next-Generation Sequencing (NGS) with confirmatory Sanger sequencing; ISO 9001:2015 certified
ICD-10-CM Code Q04.2, Q87.0, Z82.79
LOINC Code 82938-1
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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