Test Price
2,800 AED✅ Home Collection Available
SHH Gene Holoprosencephaly Type 3 Genetic Test in UAE | 2800 AED | DHA Licensed Lab
Executive Summary & Core Metrics
Executive Summary: We offer a precise genetic test for diagnosing SHH gene mutations causing Holoprosencephaly type 3, licensed by the Dubai Health Authority (DHA) and accredited under ISO 9001:2015. Our advanced next-generation sequencing (NGS) pipeline ensures high diagnostic accuracy and comprehensive variant detection.
- Accuracy Guarantee: >99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of the SHH gene to detect pathogenic variants associated with Holoprosencephaly type 3, a severe congenital brain malformation. The test also includes copy number variant (CNV) detection for a complete genetic assessment. Results must be correlated with brain imaging (MRI) and clinical evaluation.
| Feature | Our Test (UAE Lab) | Closest Alternative |
|---|---|---|
| Precision | >99.9% sensitivity & specificity (full gene NGS + CNV) | Sanger sequencing (targeted, limited to known hotspots) |
| Methodology | Illumina NGS with copy number variant detection | Single‑exon PCR & Sanger |
| Turnaround Time | 3 – 4 Weeks | 4 – 6 Weeks (often outsourced) |
Physician Insight & Safety Protocols
“As a clinical geneticist, I emphasize that an SHH gene result must always be correlated with detailed brain imaging (MRI) and a comprehensive dysmorphology examination. A negative NGS result does not exclude the diagnosis, as deep intronic variants or alternative genetic mechanisms may be at play. Please do not discontinue any prescribed medication or therapy without consulting your managing pediatrician or geneticist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Reg. 9294403
Medication Advisory
Genetic test results should never replace clinical judgment. Always consult your managing physician before making changes to prescribed therapies. Do not discontinue any medication without professional guidance.
Patient Safety Exclusion Criteria & Emergency Red Flags
- Unstable neonate requiring intensive care – coordinate phlebotomy with NICU staff.
- Severe coagulopathy or bleeding risk not yet stabilized.
- Rapid neurological deterioration or signs of raised intracranial pressure – urgent neuroimaging first.
- If the patient is under 18, written informed consent from legal guardian is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the accuracy of this SHH genetic test?
Our NGS pipeline delivers >99.9% analytical sensitivity and specificity for single nucleotide variants and small insertions/deletions across the entire SHH coding region, and every positive finding is confirmed by orthogonal Sanger sequencing to eliminate false positives.
2. How is the sample collected for my child?
A certified pediatric phlebotomist from our DHA‑licensed home collection team draws 2 mL of venous blood into an EDTA tube using a minimally traumatic, child‑friendly technique; alternatively, a simple fingerprick onto an FTA card may be used for infants when ordered by the referring physician.
3. Can this test be performed during pregnancy?
Yes, the genetic analysis of the SHH gene can be performed on samples obtained through amniocentesis or chorionic villus sampling after genetic counseling, in compliance with UAE legal and ethical regulations. Please contact our genetic counseling team at +971 54 548 8731 for further guidance.
4. What pre-test requirements are needed?
Clinical history of the patient and a genetic counseling session to construct a three‑generation pedigree chart of family members affected by holoprosencephaly or related midline anomalies. This session can be arranged via our DHA‑licensed telehealth genetic counselor.
UAE Regulatory & Data Privacy Adherence
Your data is protected under 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. All genetic results are encrypted, access-restricted, and handled in compliance with DHA standards. Our laboratory operates under DHA Facility License No. 1143 (Dubai Healthcare City) and is ISO 9001:2015 certified. We adhere to the highest ethical and legal standards for genetic testing in the UAE.
Clinical & Logistical Metadata
| Test Name | SHH Gene Holoprosencephaly Type 3 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA card), 2 mL |
| Methodology Used | Next-Generation Sequencing (NGS) of complete SHH coding region plus CNV detection, confirmed by Sanger sequencing |
| ICD-10-CM Code | Q04.2 (Holoprosencephaly) |
| LOINC Code | 94531-1 (SHH gene mutation detection in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians