Test Price
2,800 AED✅ Home Collection Available
SIX3 Gene Holoprosencephaly Type 2 Genetic Test – Dubai Healthcare City
Executive Summary & Core Metrics
This definitive SIX3 gene analysis provides comprehensive exon-level coverage of the SIX3 locus on chromosome 2p21, with variant classification aligned to the ACMG/AMP Standards and Guidelines for Sequence Variant Interpretation. Designed for pediatric, neonatal, and familial diagnostic evaluations, the test delivers clinically actionable results for holoprosencephaly type 2 (HPE2), a disorder of forebrain cleavage. Our multidisciplinary team, including paediatric neurologists and clinical geneticists, ensures every result is interpreted within the full clinical phenotype and three-generation pedigree.
Test Overview & Methodology
The SIX3 Gene Holoprosencephaly Type 2 Genetic Test utilises next-generation sequencing (NGS) to identify germline mutations within the SIX3 homeobox gene, a critical regulator of forebrain and midface embryonic development. Holoprosencephaly Type 2 (HPE2; OMIM: 157170) results from loss-of-function variants in SIX3, leading to incomplete cleavage of the prosencephalon with variable phenotypic severity. This test is indicated for paediatric patients presenting with craniofacial midline dysmorphology, families with a known history of HPE2 seeking carrier or predictive testing, and neonates requiring urgent diagnostic clarification in the NICU setting.
| Parameter | Our Test (NGS – SIX3 Full Gene) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% – Full exon & splice-site coverage | 85–95% – Limited to targeted amplicons |
| Methodology | NGS (Next Generation Sequencing) with LC-MS/MS validation | Conventional Sanger Sequencing |
| Turnaround Time | 3 to 4 Weeks (Expedited Available) | 4 to 6 Weeks |
| Variant Classification | ACMG/AMP Standards and Guidelines | Basic ACMG 2015 Guidelines |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
"Ordering a genetic test for your child is a profoundly emotional decision that deserves both precision and compassion. Every SIX3 gene result must be carefully correlated with the full clinical phenotype, neuroimaging findings, and a detailed three-generation pedigree before any conclusion is reached. Our multidisciplinary team—including paediatric neurologists, clinical geneticists, and genetic counsellors—is dedicated to guiding families through every result with empathy and an unwavering commitment to the child's best outcome."
Medication Advisory
Do not discontinue any prescribed medication or alter your child’s treatment regimen without direct consultation with your treating physician. This genetic test is a diagnostic tool and does not replace ongoing clinical management or therapeutic interventions.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Physician Clearance)
- Inability to provide valid informed consent from a legal guardian (mandatory for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability)
- Recent whole blood transfusion within 14 days (may cause sample admixture and invalidate results)
- Active systemic infection requiring inpatient hospitalization
- Known bone marrow transplant recipient (donor DNA interference risk)
ER Red Flags — Seek Immediate Medical Attention
- New-onset seizures or status epilepticus
- Acute respiratory distress or apneic episodes
- Severe failure to thrive with dehydration
- Signs of increased intracranial pressure (bulging fontanelle, projectile vomiting, sunsetting eyes)
Patient FAQ & Clinical Guidance
1. What is the SIX3 Gene Holoprosencephaly Type 2 Genetic Test, and who should consider it?
This test analyzes the SIX3 gene for mutations associated with holoprosencephaly type 2 (HPE2). It is clinically indicated for paediatric patients exhibiting craniofacial dysmorphology, families with a known history of HPE2 planning future pregnancies or seeking carrier status clarification, and neonates in NICU with suspected midline structural brain anomalies requiring urgent molecular confirmation to guide clinical management and surgical planning.
2. How is the test sample collected, and what is the turnaround time in the UAE?
A simple blood draw, extracted DNA sample, or a single drop of blood on an FTA card is collected by our DHA-licensed phlebotomists through the VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service, available daily from 8 AM to 11 PM across all seven emirates. Once the sample reaches our ISO-certified laboratory, the NGS sequencing and bioinformatic analysis are completed within a turnaround time of 3 to 4 weeks, after which a comprehensive clinical report with ACMG-classified variants is delivered to your referring physician. An optional telephonic post-test counselling session is included.
3. Does insurance cover the cost, and what documents are required?
Insurance coverage is verified directly via WhatsApp at +971 54 548 8731, where our team reviews your policy and completes pre-approval procedures with major UAE insurance providers. Required documents include your Emirates ID, valid health insurance card, a medical report from the referring specialist detailing the clinical indication, and the signed informed consent form from the legal guardian as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability. The self-pay cost is 2,800 AED, inclusive of home collection and genetic counselling.
UAE Regulatory & Data Privacy Adherence
Commitment to Data Protection and Healthcare Regulations
DNA Labs UAE complies fully 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 clinical safety are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is stored encrypted and accessible only to the clinical team and the patient’s referring physician. Our laboratory is ISO 9001:2015 certified (Certificate No. INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143.
Physical address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | SIX3 Gene Holoprosencephaly Type 2 Genetic Test (NGS Full Gene Analysis) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (Expedited available upon request) |
| Sample Type / Matrix | Peripheral whole blood, buccal swab, or extracted DNA (FTA card acceptable) |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation for clinically significant variants; LC-MS/MS for validation if required |
| ICD-10-CM Code | Q04.2 (Holoprosencephaly) |
| LOINC Code | 88040-1 (SIX3 gene full sequencing) |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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