Test Price
2,800 AED✅ Home Collection Available
PTPRC Gene Severe Combined Immunodeficiency (T Cell-Negative, B-Cell/NK-Cell Positive) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Our test provides definitive molecular diagnosis for PTPRC-related Severe Combined Immunodeficiency (SCID) with T cell-negative, B cell/NK cell-positive phenotype, utilizing Next-Generation Sequencing (NGS). Price: 2,800 AED. Turnaround Time: 3–4 weeks from sample receipt. Sample Type: Peripheral whole blood, extracted DNA, or FTA card. Methodology: High-depth NGS with validated bioinformatics pipeline. Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all UAE emirates. For booking and insurance verification, WhatsApp +971 54 548 8731.
Test Overview & Methodology
This genetic test employs state-of-the-art NGS technology with 100% coverage of all coding exons and splice sites of the PTPRC gene. Pathogenicity classification per ACMG guidelines is included, enabling precise clinical management and family screening. The report is delivered within 3–4 weeks and includes a telephonic clinical guidance session to explain results.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | >99.9% sensitivity for point mutations, indels, and copy number variants | Limited to targeted exons; may miss deep intronic or regulatory variants |
| Method | Next-Generation Sequencing (NGS) with high-depth coverage and validated bioinformatics pipeline | Conventional Sanger sequencing of individual amplicons |
| Turnaround Time | 3–4 weeks from sample receipt | 6–8 weeks or longer if multiple exons required |
| Sample Options | Whole blood, extracted DNA, or one drop of blood on FTA card | Typically requires high-quality extracted DNA |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403:
"As a specialist in medical genetics, I recognise that a diagnosis of severe combined immunodeficiency can be life-altering for families. This NGS test provides a precise molecular basis for PTPRC-related SCID, guiding early hematopoietic stem cell transplantation and genetic counselling. A negative result does not exclude all immune deficiencies; comprehensive immunological workup remains essential. Always discuss results with your immunologist or clinical geneticist for integrated management."
Advisory Notes
Medication Safety: Do not discontinue any prescribed medication without consulting your doctor. Genetic testing does not replace ongoing immunosuppressive or prophylactic therapy. Home Collection Protocol: A certified phlebotomist will collect the sample under strict cold-chain conditions. If the patient develops high fever (>39°C), severe respiratory distress, or signs of sepsis during the home collection period, immediately call 998 and notify the laboratory to reschedule.
Exclusion Criteria
- Inability to provide informed consent.
- Samples that are hemolyzed, insufficient, or not collected per DHA guidelines.
- Acute life-threatening infection requiring urgent stabilisation prior to sample collection.
Patient FAQ & Clinical Guidance
1. What is the PTPRC gene test for SCID?
The PTPRC NGS test identifies mutations causing T-cell-negative, B-cell/NK-cell-positive severe combined immunodeficiency. It provides a definitive molecular diagnosis to guide early intervention and family screening.
2. How is the test performed and what sample is needed?
A simple blood draw, extracted DNA, or FTA card is collected at your home by our certified phlebotomist under strict cold-chain conditions. Samples are transported to our ISO-certified laboratory for NGS analysis.
3. How long does it take to get results?
Your PTPRC gene sequencing report is delivered within 3 to 4 weeks after sample collection. The report includes pathogenicity classification and a telephonic clinical guidance session.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly 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 for all data security and patient privacy. Clinical testing safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All results are handled with the highest confidentiality and are never shared without explicit consent.
Clinical & Logistical Metadata
| Test Name | PTPRC Gene Severe Combined Immunodeficiency (T Cell-Negative, B-Cell/NK-Cell Positive) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) with high-depth coverage and validated bioinformatics pipeline |
| ICD-10-CM Code | D81.2 |
| LOINC Code | 91854-8 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab Branding: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians