Test Price
2,800 AED✅ Home Collection Available
PHKA2 Gene (Glycogen Storage Disease Type IXa) Genetic Test in UAE – 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Clinical Excellence & Seamless Patient Journey
- 99.9% Diagnostic Sensitivity via ISO‑certified NGS processing – UAE’s premium clinical genomics platform.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM.
- Clinical Guidance: Complimentary telephonic post‑test consultation with a Consultant Medical Geneticist to interpret results.
- Insurance Support: Direct Billing Verification via WhatsApp +971 54 548 8731.
- DHA Licensed Facility: License No. 1143 – Dubai Healthcare City.
Test Overview & Methodology
This test sequences the entire coding region of the PHKA2 gene using Next‑Generation Sequencing (NGS) to detect pathogenic variants responsible for Glycogen Storage Disease Type IXa (GSD IXa), the most common liver glycogenosis. It provides a definitive molecular diagnosis, enabling targeted management, family screening, and genetic counselling.
Pre‑Test Requirement: A genetic counselling session to draw a pedigree of family members affected with GSD IXa is recommended before sample submission.
| Parameter | Our Test (NGS) | Traditional Sanger Sequencing |
|---|---|---|
| Methodology | NGS – high‑depth parallel sequencing | Sanger – single‑amplicon capillary electrophoresis |
| Variant Detection | SNVs, indels, CNVs (99.9% analytical sensitivity) | Limited to known single‑nucleotide changes |
| Turnaround Time | 3–4 Weeks (streamlined bioinformatics) | 8–12 Weeks (fragmented amplicons) |
| Reporting | Clinically curated with ACMG classification | Binary variant presence/absence |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasise that this genomic analysis is a precise diagnostic instrument, yet it must always be correlated with the full clinical presentation and multisystem evaluation. A negative result does not entirely exclude disease, and any therapeutic adjustment must be guided by the managing physician after integrating all clinical data.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Clinical Advisory
Do not discontinue any prescribed medication, including liver‑protective drugs or dietary therapy, without consulting your doctor. Genetic results alone do not justify abrupt treatment changes. Always consult your managing physician before altering any regimen.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Whole blood sample within 4 weeks of a major blood transfusion
- Severe anemia (Hb < 7 g/dL) or active bleeding disorder
- Known pregnancy – alternative non‑invasive screening recommended
- Unwilling or unable to provide informed consent
ER Red Flags (Seek Immediate Care)
- Severe hypoglycaemia (unable to maintain consciousness)
- Recurrent seizures or hepatomegaly with acute pain
- Signs of acute liver failure (jaundice, coagulopathy)
Patient FAQ & Clinical Guidance
1. What is the purpose of this genetic test?
It detects mutations in the PHKA2 gene to confirm a clinical suspicion of Glycogen Storage Disease Type IXa, enabling a definitive diagnosis and guiding dietary management and enzyme replacement therapy decisions.
2. How is the sample collected and what logistics are provided?
A certified phlebotomist collects a whole blood sample (or a dried blood spot on FTA card) from the comfort of your home using a hospital‑grade cold‑chain kit. The process is painless, takes under 10 minutes, and is available daily from 8 AM to 11 PM with VIP Mobile Phlebotomy service.
3. What do my results mean and who interprets them?
Results indicate whether a disease‑causing variant is present, absent, or of uncertain significance; they must be reviewed by a clinical geneticist through our complimentary post‑test consultation to correlate with your symptoms and family history.
4. How long does it take to receive results?
The standard turnaround time is 3–4 weeks from sample receipt, allowing for comprehensive NGS data analysis, bioinformatic processing, and clinical variant classification according to ACMG guidelines.
5. Is genetic counselling included with this test?
Yes, a complimentary telephonic post‑test consultation with a Consultant Medical Geneticist is provided to help you understand your results, discuss inheritance patterns, and plan family screening if indicated.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – full data sovereignty and patient consent governance.
- Federal Law No. 2 of 2019 – Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure digital health data exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – governing clinical testing safety and patient consent protocols.
- DHA Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | PHKA2 Gene (Glycogen Storage Disease Type IXa) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – high‑depth parallel sequencing of PHKA2 coding regions |
| ICD-10-CM Code | E74.09 |
| LOINC Code | 74046-9 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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