Test Price
2,800 AED✅ Home Collection Available
PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test | AED 2,800 | DNA Labs UAE
Executive Summary & Core Metrics
- 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
The PUS1 Gene NGS Test provides definitive molecular diagnosis with 100% coverage of coding exons ±10 bp using next-generation sequencing technology. It detects pathogenic variants in the PUS1 gene responsible for mitochondrial myopathy and sideroblastic anemia type 1 (MLASA1), an autosomal recessive disorder.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Full Gene Sequencing) | Sanger sequencing (single exon) |
| Diagnostic Yield | 99.9% sensitivity for PUS1 variants | ~85% – may miss deep intronic mutations |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics, I emphasize that genetic test results must be interpreted in the context of clinical findings and family history. The PUS1 NGS test provides comprehensive coverage of the gene, enabling accurate diagnosis of mitochondrial myopathy and sideroblastic anemia. I advise all patients to undergo pre-test genetic counseling to fully understand the implications of testing and to ensure informed consent. Our team is dedicated to providing compassionate post-test guidance to support you through the process.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Do not discontinue any prescribed medication without consulting your supervising physician. Genetic results do not replace ongoing clinical management.
Pre-Test Advisory: Genetic Counselling Required
A certified genetic counselling session and documentation of a three‑generation pedigree chart are mandatory before sample collection. This ensures you fully understand the implications of genetic testing, including potential results and privacy rights.
Patient Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent; minors without legal guardian consent; recent blood transfusion within 4 weeks (may affect DNA extraction yield).
- Pre‑Test Mandate: Pre‑test genetic counselling session and a three‑generation pedigree chart are required before sample collection.
- Emergency Red Flags: If you develop acute muscle weakness leading to breathing difficulty, severe pallor, or fainting, immediately visit the nearest emergency department. These could indicate a metabolic crisis or critical anemia requiring urgent care.
Patient FAQ & Clinical Guidance
1. What exactly does the PUS1 NGS test detect?
Snippet‑Ready Answer: This test sequences the entire PUS1 gene to detect pathogenic variants linked to mitochondrial myopathy and sideroblastic anemia type 1 (MLASA1). It identifies single nucleotide substitutions, small insertions/deletions, and copy number variations within the gene’s coding regions and intronic boundaries. The results help confirm a clinical diagnosis, guide treatment, and inform family planning through genetic counselling.
2. How should I prepare for the test and what sample is required?
Snippet‑Ready Answer: You must attend a pre‑test genetic counselling session and provide a three‑generation family pedigree. The accepted samples are 2–3 mL of whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. No fasting is required, but we recommend avoiding vigorous exercise 12 hours before sample collection to prevent transient muscle enzyme fluctuations.
3. Will my insurance cover this genetic test, and how do I verify?
Snippet‑Ready Answer: Most UAE‑based insurance plans cover diagnostic genetic tests when ordered by a DHA‑licensed neurologist or hematologist with appropriate clinical justification. You can instantly verify coverage by sending a photo of your Emirates ID and insurance card to our WhatsApp +971 54 548 8731, and our team will confirm direct billing eligibility and any required prior authorizations.
UAE Regulatory & Data Privacy Adherence
Our laboratory operates under DHA Facility License No. 1143 and adheres to 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 analyses are performed with strict confidentiality and data security. Our ISO 9001:2015 certification (INT/EGQ/2509DA/3139) guarantees international quality standards.
Clinical & Logistical Metadata
| Test Name | PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | NGS (Full Gene Sequencing with 100% coverage of coding exons ±10 bp) |
| ICD-10-CM Code | D64.0, G71.3 |
| LOINC Code | 98979-8 |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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