Test Price
2,800 AED✅ Home Collection Available
AKT2 Gene Hypoinsulinemic Hypoglycemia with Hemihypertrophy Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
✅ Diagnostic Accuracy: 99.9% analytical sensitivity achieved through ISO-accredited next-generation sequencing with confirmatory MLPA analysis (Cert: INT/EGQ/2509DA/3139).
✅ Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Direct hospital-grade specimen handling ensures sample integrity.
✅ Post-Test Guidance: Complimentary telephonic result interpretation by a DHA-licensed consultant medical geneticist to contextualize findings and guide management.
✅ Insurance & Billing: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced next-generation sequencing (NGS) test interrogates the entire coding region and conserved splice junctions of the AKT2 gene to detect pathogenic variants responsible for hypoinsulinemic hypoglycemia with hemihypertrophy. This rare congenital disorder presents with fasting or post-prandial hypoglycemia independent of insulin dysregulation, accompanied by asymmetric somatic overgrowth. Definitive molecular diagnosis enables targeted surveillance for Wilms tumor and guides dietary, pharmacological, and surgical management decisions.
| Feature | Our NGS Test | Single-Gene Sequencing (Alternative) |
|---|---|---|
| Diagnostic Precision | >99% analytical sensitivity (NGS + MLPA confirmation) |
~95% sensitivity (Sanger sequencing only) |
| Methodology | High-depth NGS with custom capture panel covering all coding exons and splice junctions | Traditional Sanger base-by-base reading of targeted exons only |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Specialist Interpretation | In-house DHA consultant medical geneticist report with multidisciplinary review | External referral, longer review cycle |
Physician Insight & Safety Protocols
"Families facing recurrent unexplained hypoglycemia in a child often experience profound anxiety before a molecular diagnosis is established. This AKT2 gene test provides the precise genetic answer needed to shift from uncertainty to a structured management plan—including dietary modification, tumor surveillance, and, where indicated, surgical referral. However, a genetic result must never be interpreted in isolation; it requires correlation with the full clinical, biochemical, and radiological picture."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Clinical Advisory
Medication Safety Notice: Do not discontinue, adjust, or withhold any prescribed therapy—including diazoxide, octreotide, or anticonvulsant regimens—without direct authorization from the treating endocrinologist. Unsupervised medication changes may precipitate severe rebound hypoglycemia requiring emergency medical intervention.
Patient Safety Exclusion & Emergency Red Flags
- Exclusion Criteria: Patients with acute metabolic crisis, hemolytic blood transfusion within 14 days, or inability of a legal guardian to provide valid informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability are not eligible for outpatient testing.
- Immediate Emergency Indicators: If the patient experiences loss of consciousness, persistent seizure activity, or venous glucose below 50 mg/dL that does not respond to oral glucose or glucagon rescue, seek hospital-based emergency care without delay.
Patient FAQ & Clinical Guidance
1. What is the AKT2 gene test used for?
This test analyzes the entire AKT2 gene coding region to detect mutations causing hypoinsulinemic hypoglycemia with hemihypertrophy. It is indicated for infants and children presenting with fasting or post-prandial hypoglycemia unresponsive to diazoxide therapy, accompanied by asymmetric overgrowth of one side of the body. The result confirms the molecular diagnosis, enabling tailored dietary management and structured surveillance for Wilms tumor and other overgrowth-associated neoplasms.
2. Why is next-generation sequencing preferred over older methods for this condition?
NGS delivers 99.9% analytical sensitivity by reading every coding base at high depth, enabling detection of mosaic, splice-site, and deep intronic variants that Sanger sequencing routinely misses. Our enhanced bioinformatics pipeline additionally identifies copy-number variations and structural rearrangements. This comprehensive single-assay approach eliminates the need for sequential testing, reducing overall diagnostic turnaround time and minimizing clinical uncertainty for affected families.
3. How should I prepare my child for the blood draw?
Maintain normal diet and hydration; no fasting is required. A light meal before collection is advised to prevent hypoglycemia during the visit. The sample is collected via standard venipuncture (1–3 mL in EDTA tube) and must be accompanied by a signed informed consent form as required by Federal Decree-Law No. 4 of 2016 on Medical Liability. Pre-test genetic counselling is mandatory to construct a three-generation pedigree and discuss inheritance patterns, recurrence risks, and potential implications for family members.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: All genetic data processing, storage, and transmission strictly comply 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. Clinical testing safety, patient consent, and medical liability frameworks follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143 in Dubai Healthcare City.
Clinical & Logistical Metadata
| Test Name | AKT2 Gene Hypoinsulinemic Hypoglycemia with Hemihypertrophy Genetic Test (Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube, 1–3 mL). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | High-depth Next-Generation Sequencing (NGS) with custom capture panel covering all coding exons, splice junctions, and selected intronic regions; confirmatory MLPA for copy-number variants. |
| ICD-10-CM Code | E16.1, Q87.3, Z15.89 |
| LOINC Code | 81231-4 |
| DHA Facility License & Laboratory Address | DNA Labs UAE | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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