Test Price
2,800 AED✅ Home Collection Available
CTPS1 Gene Immunodeficiency Type 24 Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Promise & Diagnostic Precision
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next-Generation Sequencing. Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Clinical Guidance: Complimentary post-test genetic counselling by a DHA-licensed Consultant Medical Geneticist. Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Core Metrics: Turnaround Time: 12–16 business days | Sample Type: Peripheral Whole Blood | Method: NGS with Sanger Confirmation | Price: 2,800 AED
Test Overview & Methodology
The CTPS1 NGS test analyzes the entire coding region of the CTPS1 gene to diagnose Immunodeficiency Type 24, a severe combined immunodeficiency (SCID) presenting with erythroderma, lymphopenia, and recurrent infections. Early molecular confirmation guides life‑saving hematopoietic stem cell transplantation. The test uses Next‑Generation Sequencing (NGS) with 100% coverage of exonic regions and orthogonal Sanger confirmation, delivering a comprehensive clinical report within 12–16 business days.
| Feature | Our CTPS1 NGS Test | Closest Alternative |
|---|---|---|
| Precision | Full gene sequencing with variant detection >99% | Hotspot panel / single‑exon analysis (limited coverage) |
| Method | Illumina NGS + orthogonal Sanger confirmation | Sanger sequencing only (lower throughput) |
| Turnaround Time | 12–16 business days | 4–6 weeks with manual analysis |
| Clinical Utility | Eligibility for HSCT, family screening, prenatal diagnosis | Limited prognostic guidance |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“A biallelic pathogenic variant in CTPS1 provides a definitive molecular diagnosis, enabling the care team to urgently plan curative hematopoietic stem cell transplantation. Even with a negative result, comprehensive immunological phenotyping remains essential—no single genetic test is 100% perfect, and clinical correlation is the cornerstone of safe, effective care. I encourage you to discuss all findings openly with your immunologist to craft a personalized treatment path.”
Mandatory Pre-Test Genetic Counselling
Advisory Requirement
A formal genetic counselling session is required before sample collection to draw a detailed pedigree, discuss potential implications for family members, and obtain written informed consent. This process is conducted by our Consultant Medical Geneticist and ensures compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability, which mandates thorough patient education prior to any genetic testing.
Safety & Exclusion Criteria
Exclusion Criteria for Safe Collection
- Active severe infection with fever above 38.5°C – reschedule collection after clinical resolution.
- Known bleeding disorder or current anticoagulant therapy without explicit physician clearance.
- Recent blood transfusion or stem cell infusion within the past 2 weeks – risk of donor DNA interference.
Emergency Red Flags After Sample Collection
Seek immediate emergency care if you develop high fever, difficulty breathing, extensive bruising, or swelling at the puncture site.
Patient FAQ & Clinical Guidance
1. What is the CTPS1 gene test and who should consider it?
The CTPS1 gene test is a definitive diagnostic tool for severe combined immunodeficiency type 24, recommended for infants with persistent erythroderma, lymphopenia, and failure to thrive. It identifies pathogenic variants in the CTPS1 gene, enabling early hematopoietic stem cell transplantation and genetic counselling for at‑risk family members. Carrier testing provides clarity for future family planning even in asymptomatic relatives.
2. How is the sample collected and what preparation is required?
A certified phlebotomist draws a small amount of blood (3–5 mL) in your home using a cold‑chain kit. No fasting is required, but a mandatory pre‑test genetic counselling session ensures informed consent and a detailed pedigree analysis. Home collection is available daily from 8 AM to 11 PM via VIP Mobile Phlebotomy with temperature‑controlled transport.
3. How accurate is the test and what do the results mean?
Our NGS assay achieves greater than 99.9% analytical sensitivity for single‑nucleotide variants and small indels in the CTPS1 gene, delivered with a comprehensive clinical interpretation. A positive result confirms the diagnosis and triggers immediate transplant eligibility evaluation; a negative result substantially rules out CTPS1‑related SCID, though additional immunological workup may be needed for atypical presentations. Variants of uncertain significance are reviewed by a multidisciplinary team before reporting.
UAE Regulatory & Data Privacy Adherence
Your genetic data is handled with the highest standards of confidentiality and security 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. All clinical procedures, including sample collection, genetic analysis, and result disclosure, adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability which governs patient consent and professional accountability. DNA Labs UAE is an ISO 9001:2015 accredited facility regulated by the Dubai Health Authority under DHA Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | CTPS1 Gene Immunodeficiency Type 24 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 12–16 business days |
| Sample Type / Matrix | Peripheral Whole Blood – VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with Orthogonal Sanger Confirmation |
| ICD-10-CM Code | D81.89 |
| LOINC Code | 95271-6 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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