Test Price
2,800 AED✅ Home Collection Available
PHKA1 Gene Muscle Glycogenosis Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
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.
Turnaround Time: 3–4 Weeks from sample receipt.
Sample Type: Whole blood, extracted DNA, or FTA card.
Methodology: Next Generation Sequencing (NGS) on Illumina platform, mean coverage depth exceeding 100x.
Test Overview & Methodology
The PHKA1 Gene Muscle Glycogenosis Genetic Test is a comprehensive next‑generation sequencing assay that screens the entire coding region of the PHKA1 gene for pathogenic variants causing muscle glycogenosis (glycogen storage disease type IXa). This advanced molecular diagnostic enables precise identification of disease‑causing mutations, guiding targeted clinical management, family planning, and eligibility for emerging therapies.
| Parameter | Our Test (PHKA1 NGS) | Closest Alternative (Enzyme Panel / Limited Gene Test) |
|---|---|---|
| Precision | Full gene sequencing with copy number analysis | Targeted mutation hotspot analysis only |
| Methodology | Next Generation Sequencing (NGS, Illumina platform) | Sanger sequencing or enzyme activity assay |
| Turnaround | 3–4 Weeks | 4–6 Weeks |
| Regulatory Backing | DHA‑compliant, ISO 9001:2015 facility license 1143 | Variable; may not hold full UAE accreditation |
Physician Insight & Safety Protocols
"Genetic results must always be interpreted in the context of the patient's clinical picture and family history. This PHKA1 sequencing test provides high diagnostic yield for muscle glycogenosis type IXa, yet thorough phenotyping and segregation analysis remain essential for accurate variant classification and recurrence risk assessment." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Patient Safety Advisory
⚠️ Critical Precautions
Do not discontinue prescribed medication without consulting your doctor.
- Exclusion: Acute intercurrent illness (e.g., fever >38°C, systemic infection) that could affect sample stability.
- Exclusion: Inability to provide informed consent – requires legal guardian for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flag: Sudden severe muscle weakness, myalgia with dark urine (suggestive of rhabdomyolysis) – seek immediate emergency care.
- ER Red Flag: Chest pain, respiratory difficulty, or syncope during or after exertion in known glycogenosis patients.
Intended Candidate Profile
Who Should Consider This Test
- Individuals with unexplained muscle cramps, exercise intolerance, or recurrent myoglobinuria.
- Patients with a family history of glycogen storage disease or unexplained metabolic myopathy.
- Asymptomatic siblings for carrier risk assessment and reproductive planning.
- Athletes with recurrent rhabdomyolysis pursuing personalised training regimens.
Consult your primary care physician or specialist to determine if this genetic test is appropriate for your clinical scenario.
Patient FAQ & Clinical Guidance
1. What does the PHKA1 Muscle Glycogenosis NGS test detect?
The PHKA1 Genetic Test detects pathogenic variants in the PHKA1 gene with 99.9% diagnostic sensitivity, ensuring accurate identification of muscle glycogenosis type IXa. The test analyzes all coding exons and flanking intronic regions, including deep intronic mutations, using next‑generation sequencing technology validated under ISO 9001:2015. This allows precise confirmation of the diagnosis even in atypical presentations and helps distinguish PHKA1‑related disease from other metabolic myopathies.
2. How is the test performed and what sample is needed?
Testing requires a simple blood sample, extracted DNA, or a single drop of blood on an FTA card, collected comfortably at home by our DHA‑licensed mobile phlebotomy team between 8 AM and 11 PM daily. The specimen is transported in a dedicated temperature‑controlled cold‑chain container to the central laboratory, where genomic DNA is extracted and subjected to NGS with a mean coverage depth exceeding 100x, ensuring robust detection of single nucleotide variants, small insertions/deletions, and copy number alterations.
3. Who should consider undergoing this genetic test?
Individuals with unexplained muscle cramps, exercise intolerance, recurrent myoglobinuria, or a family history of glycogen storage disease should strongly consider this definitive genetic test. It is also recommended for asymptomatic siblings for carrier risk assessment, athletes with recurrent rhabdomyolysis, and those pursuing personalised training or biohacking regimens where metabolic efficiency is critical.
4. How do I book an appointment and what is the process?
Booking is simple: contact our team via WhatsApp at +971 54 548 8731 for insurance verification and appointment scheduling. A DHA‑licensed mobile phlebotomist will visit your home or office within your chosen time window. Results are delivered electronically within 3–4 weeks, followed by a telephonic clinical guidance session with a qualified genetics specialist.
5. Is genetic counseling provided with the test?
Yes, post‑test telephonic clinical guidance is included in the service package. A board‑certified clinical geneticist or genetic counsellor will discuss your results, explain implications for family members, and guide you on next steps including referral to specialist metabolic or neurology services if indicated.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
- Data Protection: All patient information is processed and stored in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring your genetic data remains confidential and is never shared without explicit consent.
- Health Information Governance: Our laboratory infrastructure and electronic health record systems conform to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing secure handling of digital health data.
- Medical Liability & Consent: All clinical procedures, including genetic testing and informed consent protocols, adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, protecting patient rights and ensuring ethical practice.
- Laboratory Accreditation: DNA Labs UAE is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143, upholding the highest standards of quality and accuracy in molecular diagnostics.
Clinical & Logistical Metadata
| Test Name | PHKA1 Gene Muscle Glycogenosis Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) on Illumina Platform |
| ICD-10-CM Code | E74.09 |
| LOINC Code | 94830-8 |
| 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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