Test Price
2,800 AEDโ Home Collection Available
TPI1 Gene Triosephosphate Isomerase Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified next-generation sequencing.
- Premium Logistics: VIP mobile phlebotomy with temperature-controlled cold-chain home collection, available daily 8 AM to 11 PM across all UAE emirates.
- Clinical Guidance: Telephonic post-test consultation with a consultant medical geneticist for comprehensive result interpretation.
- Insurance Verification: Direct billing confirmation available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced next-generation sequencing (NGS) test comprehensively analyzes the TPI1 gene to identify pathogenic mutations responsible for triosephosphate isomerase deficiencyโa rare autosomal recessive inborn error of metabolism leading to chronic hemolytic anemia, progressive neuromuscular dysfunction, and increased susceptibility to infections. It serves as the gold standard for molecular confirmation, carrier detection, and informed family planning.
| Feature | Our Test (ISO 9001:2015) | Alternative (Enzyme Assay) |
|---|---|---|
| Methodology | Full gene NGS, covering exons and splice sites | Biochemical triosephosphate isomerase activity in RBCs |
| Diagnostic Sensitivity | 99.9% | Variable (affected by recent transfusion) |
| Turnaround Time | 3โ4 weeks | 2โ3 weeks |
| Carrier and Prenatal Testing | Yes (definitive) | No |
Physician Insight & Safety Protocols
โGenetic diagnosis of TPI1 deficiency requires careful correlation with clinical presentation and family pedigree analysis. The NGS approach provides definitive molecular evidence, but results must always be contextualized within the full spectrum of metabolic and hematologic findings to guide management and reproductive counseling.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory โ Pre-Test Requirements
Essential Precautions Before Sampling
- Transfusion Window: Do not undergo blood collection within two weeks of a packed red cell transfusion, as donor DNA may interfere with sequencing accuracy.
- Emergency Indicators: Seek immediate medical attention if you experience sudden pallor, dark urine, profound muscle weakness, palpitations, or signs of hemolytic or aplastic crisis.
- Medication Continuity: Never discontinue any prescribed therapy without prior consultation with your treating physician.
Exclusion Criteria โ Contraindications to Testing
Situations Requiring Deferral
- Active hematological malignancy or bone marrow failure syndrome not yet characterized.
- Recent allogeneic stem cell transplant or bone marrow transplant within the past six months.
- Inability to provide informed consent or absence of a legal guardian for minor patients.
Patient FAQ & Clinical Guidance
1. What is the TPI1 genetic test and who should consider it?
Direct Answer: This DNA test screens for triosephosphate isomerase deficiency by sequencing the entire TPI1 gene, confirming mutations that cause this rare autosomal recessive disorder. It is indicated for individuals with unexplained hemolytic anemia, neuromotor delays, or a positive family history of metabolic disease, as well as for carrier screening in consanguineous families. Clinical genetic counseling is mandatory before sampling.
2. How is the sample collected and when will I receive my results?
Direct Answer: A licensed mobile phlebotomist collects a peripheral whole blood sample at your home under strict temperature-controlled cold-chain conditions. Your confidential molecular report is delivered within three to four weeks. Collection is available across all UAE emirates daily from 8 AM to 11 PM, including weekends and public holidays.
3. Is the test covered by health insurance in the UAE?
Direct Answer: Many UAE health insurers reimburse genetic testing for confirmed clinical indications such as unexplained hemolytic anemia or suspected inborn errors of metabolism. Our team will verify your coverage upon receiving your policy details via WhatsApp. All personal health and genetic data are processed exclusively under the UAE Personal Data Protection Law (PDPL) and applicable health data regulations.
4. What does the test result mean for my family members?
Direct Answer: A positive result confirms biallelic pathogenic variants in TPI1, establishing a definitive diagnosis of triosephosphate isomerase deficiency. First-degree relatives may be at risk of being carriers or affected siblings. Post-test genetic counseling is provided to discuss cascade screening, reproductive options, and family planning.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This diagnostic service operates in full compliance 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 safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and is licensed by the Dubai Health Authority under facility license number 1143.
Clinical & Logistical Metadata
| Test Name | TPI1 Gene Triosephosphate Isomerase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) |
| Methodology Used | Next-Generation Sequencing (NGS) โ full gene coverage including exons and splice sites |
| ICD-10-CM Code | D55.2, E74.8, Z13.8 |
| LOINC Code | 81232-6 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians