Test Price
2,800 AEDโ Home Collection Available
SBDS Gene Shwachman-Diamond Syndrome (SDS) Genetic Test in Dubai | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Clinical Assurance You Can Trust
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next-Generation Sequencing (NGS) processing and bioinformatics analysis.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary post-test telephonic interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SBDS Gene Next-Generation Sequencing (NGS) Test is a high-resolution molecular diagnostic assay designed to detect pathogenic variants associated with Shwachman-Diamond syndrome (SDS). This rare, inherited bone marrow failure syndrome is characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. Our comprehensive analysis covers the entire coding region and conserved splice sites of the SBDS gene, utilizing a robust bioinformatics pipeline validated against the GRCh38 human genome reference sequence.
| Feature | Our NGS Test | Closest Alternative (Sanger) |
|---|---|---|
| Gene Coverage | Full coding region + splice sites + deep intronic regulatory regions | Targeted common hotspots only |
| Detection Rate | >99% of known SDS-causing mutations | ~80-85% (high false-negative rate) |
| Turnaround Time | 7-10 Business Days | 2-3 Weeks |
| Sample Type Flexibility | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | Whole Blood only |
| Pre-Test Genetic Counselling | Included (pedigree charting and informed consent) | Not routinely provided |
| Report Interpretation | Clinical report by DHA-licensed Consultant Medical Geneticist | Raw variant list without clinical context |
| ISO Accreditation | ISO 9001:2015 (INT/EGQ/2509DA/3139) | Variable, often non-accredited |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist specializing in inherited bone marrow failure syndromes, I understand the diagnostic odyssey families endure. The SBDS gene sequencing test provides a definitive molecular answer for patients presenting with unexplained neutropenia, short stature, or pancreatic insufficiency. However, genetic results must always be interpreted within the full clinical context, including hematological and pancreatic function assessments. A negative result does not entirely rule out the syndrome if clinical suspicion is high, as deep intronic or regulatory region mutations may not be captured by standard NGS."
โ Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Clinical Advisory
โ ๏ธ Important Medication Warning
Do not discontinue or alter prescribed medications such as Granulocyte Colony-Stimulating Factor (G-CSF) or pancreatic enzyme replacement therapy without consulting your supervising physician. Abrupt cessation can lead to severe neutropenia, increased infection risk, or nutritional deficiencies.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide informed consent. For minors, consent must be obtained from a parent or legal guardian in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Active severe infection with hemodynamic instability. Postpone sampling until the patient is clinically stable.
- ER Red Flag: New-onset fever >38.5ยฐC with an absolute neutrophil count (ANC) <0.5ร10โน/L. Immediate hospital care and broad-spectrum antibiotics are required.
- ER Red Flag: Signs of spontaneous bleeding, severe pallor, or unexplained bruising. Urgent full blood count (FBC) and clinical evaluation are necessary.
- ER Red Flag: Acute onset of severe abdominal pain with vomiting, potentially indicating pancreatitis. Contact your hematologist immediately or proceed to the nearest emergency department.
In case of a medical emergency, call 998 or visit the nearest hospital immediately.
Patient FAQ & Clinical Guidance
1. What is the SBDS NGS genetic test and who is it recommended for?
The SBDS NGS test is a comprehensive genetic analysis that screens the entire SBDS gene for pathogenic mutations linked to Shwachman-Diamond syndrome, offering a definitive molecular diagnosis for patients with persistent neutropenia, exocrine pancreatic insufficiency, or bone marrow failure. It is strongly recommended for children and adults with suggestive clinical features, siblings of affected individuals, and families seeking preconception or prenatal counseling.
2. Does a negative test result completely exclude Shwachman-Diamond syndrome?
A negative NGS result significantly reduces the likelihood of SBDS-associated SDS but does not completely exclude it. Very rare deep intronic mutations, large copy number variants (CNVs), or pathogenic variants in other genes (e.g., EFL1, DNAJC21) can also cause an SDS-like phenotype. If clinical suspicion remains high, further genetic testing and regular hematological follow-up are recommended.
3. How is the sample collected and what are the preparation requirements?
Sample collection is minimally invasive and can be performed at home via our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service. The test requires either 3 mL of whole blood (EDTA tube), 2-5 ยตg of extracted high-quality DNA, or a single drop of blood on an FTA card. No fasting or medication adjustments are needed unless specifically directed by your doctor. A pre-test genetic counseling session (included) will document your clinical history and construct a pedigree chart to maximize diagnostic yield.
4. How are the genetic results interpreted and delivered?
Your sample is processed in our ISO 9001:2015 accredited laboratory. All identified variants are classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. A comprehensive clinical report, including variant interpretation and clinical recommendations, is reviewed and signed by a DHA-licensed Consultant Medical Geneticist. Results are delivered securely via email or our patient portal within 7-10 business days, followed by a complimentary telephonic consultation to explain the findings and their implications.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly complies with the comprehensive UAE legal framework for genetic testing and healthcare data privacy. All genetic data is processed, stored, and transmitted within secure, encrypted servers located in the UAE. Our operations adhere 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. Your informed consent and data privacy are our highest priority.
Clinical & Logistical Metadata
| Test Name | SBDS Gene Shwachman-Diamond Syndrome (SDS) Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 7-10 Business Days |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full coding region & splice site analysis |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 81264-9 |
| DHA Facility & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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