Test Price
2,800 AED✅ Home Collection Available
SRP72 Gene Sequencing for Bone Marrow Failure Syndrome Type 1 | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Diagnostic sensitivity of 99.9% for SRP72 pathogenic variants via validated NGS with 500x mean coverage. Turnaround time of 3 to 4 weeks from sample receipt. Includes mandatory pre‑test genetic counselling with pedigree mapping and a post‑test tele‑consultation with a consultant medical geneticist. VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM. Insurance pre‑approval verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The SRP72 Gene Sequencing Test detects pathogenic variants in the SRP72 gene associated with autosomal recessive bone marrow failure syndrome type 1 (BMFS1). This next‑generation sequencing (NGS) assay examines the entire coding region with deep read coverage (500x mean), delivering clinically actionable results for diagnosis, prognosis, and familial risk stratification. The methodology includes targeted enrichment, high‑throughput sequencing on an Illumina platform, and bioinformatic analysis against GRCh38/hg38 reference genome.
| Feature | Our Test (SRP72 NGS) | Closest Alternative (Broad Genetic Panel) |
|---|---|---|
| Diagnostic Sensitivity | 99.9% for SRP72 variants | ~92% due to uneven coverage |
| Methodology | NGS with 500x mean coverage, full gene analysis | Standard NGS, 100‑200x coverage |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
| Pre‑test Genetic Counseling | Included (pedigree mapping) | Often not provided |
Physician Insight & Safety Protocols
“The SRP72 gene result is a piece of the diagnostic puzzle; it must always be interpreted alongside the complete clinical history, family pedigree, and haematological parameters. A pathogenic variant does not equate to imminent disease, and variant classification should be performed by an experienced molecular geneticist. Please share your report with your treating haematologist to establish a personalised surveillance plan. Our team of specialists is available for post‑test consultation.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Information
Pre‑test Genetic Counselling is Mandatory: Before sample collection, a certified genetic counsellor will review your personal and family history, draw a pedigree chart, and explain the implications of possible results. This ensures informed consent and appropriate test selection.
Exclusion Criteria & Red Flags
- This test is not intended for acute medical emergencies. If you experience severe spontaneous bleeding, high fever with neutropenia, or sudden pallor with collapse, seek immediate hospital care.
- Not suitable as a standalone screening for bone marrow malignancy – a haematologist may require a bone marrow biopsy alongside this genetic test.
- Paediatric testing requires parental or guardian consent and is governed by UAE Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- If you have recently received a blood transfusion, inform the laboratory – DNA quality may be affected.
Patient FAQ & Clinical Guidance
1. What does a positive SRP72 mutation mean for my long‑term health?
A positive result confirms biallelic pathogenic variants in SRP72, indicating an inherited predisposition to bone marrow failure syndrome type 1. This does not mean an immediate cancer diagnosis, but it does require lifelong haematology monitoring with periodic blood counts and possibly a baseline bone marrow examination. Family members should consider genetic counselling and cascade testing.
2. Is home sample collection available and how does the cold‑chain work?
Yes, we offer VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM. A trained phlebotomist arrives with a temperature‑monitored kit; the sample is placed in a validated cooler and transported to our accredited laboratory via dedicated medical courier. You receive a WhatsApp notification with the collector’s photo and vehicle details for safety and transparency.
3. How are my genetic data and privacy protected under UAE law?
Your genomic data is secured under 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. Samples are de‑identified upon arrival, processed in an ISO 9001:2015 facility, and reports are released only to the ordering physician or directly to you via a password‑protected portal. No genetic information is shared with insurers or employers without your explicit, revocable consent.
UAE Regulatory & Data Privacy Adherence
This test is performed under DHA Facility License Number 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate lab branding: DNA Labs UAE. All services comply with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | SRP72 Gene Sequencing for Bone Marrow Failure Syndrome Type 1 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole blood (3–5 mL in EDTA tube), Extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) – target enrichment, 500x mean coverage, Illumina platform |
| ICD-10-CM Code | D61.09 |
| LOINC Code | 101430-3 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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