Test Price
2,800 AEDโ Home Collection Available
SH3PXD2B Gene (Frank-ter Haar Syndrome) Genetic Test in UAE | 2800 AED | DHA Approved
Executive Summary & Core Metrics
DHA APPROVED 99.9% Diagnostic Sensitivity
ISO Accredited Processing โ Every SH3PXD2B mutation detected via ultra-deep NGS with analytical validation exceeding 99.9% sensitivity and specificity.
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection
Blood, FTA card, or extracted DNA collected at your doorstep across all 7 emirates by DHA-licensed professionals. Available daily from 8 AM to 11 PM.
Post-Test Genetic Counseling
Telephonic interpretation by our Consultant Medical Genetics specialist to explain results, assess familial risk, and guide reproductive planning.
Direct Insurance Billing
Verify your coverage instantly via WhatsApp at +971 54 548 8731. We handle all administrative paperwork.
Test Overview & Methodology
This test utilizes Next-Generation Sequencing (NGS) to identify pathogenic variants in the SH3PXD2B gene, confirming Frank-ter Haar syndrome. This rare autosomal recessive disorder is characterized by craniofacial dysostosis, skeletal dysplasia, and primary immunodeficiency. Definitive molecular diagnosis provides clarity for affected families, enables proactive medical management for known complications such as immune dysfunction, and facilitates early screening for at-risk siblings.
Our methodology employs the Illumina NovaSeq platform to achieve comprehensive coverage of the SH3PXD2B coding regions and splice sites, detecting single nucleotide variants (SNVs), insertions/deletions (indels), and copy number variants (CNVs) with exceptional analytical validity.
| Feature | Our NGS Test (UAE) | Standard Sanger Sequencing (Abroad) |
|---|---|---|
| Precision | 99.9% sensitivity, full gene coverage | ~95%, single exon focus |
| Methodology | NGS (Illumina NovaSeq) โ detects SNVs, indels, CNVs | Sanger sequencing โ limited to point mutations |
| Turnaround | 3โ4 Weeks | 6โ8 Weeks (incl. shipping) |
| Data Privacy | UAE PDPL-compliant local processing | Sent outside jurisdiction, minimal control |
Physician Insight & Safety Protocols
โConfirming a diagnosis of Frank-ter Haar syndrome through comprehensive SH3PXD2B sequencing is paramount for accurate prognosis, tailored surveillance for immunodeficiency, and informed family planning. However, genomic results must always be interpreted within the full clinical context and confirmed by a qualified specialist. Test results should be shared and discussed within a formal genetic counseling framework.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA ID: 9294403
Medication & Clinical Advisory
Do not discontinue, alter, or initiate any prescribed therapy, including immunosuppressants, corticosteroids, or supportive care regimens, without direct consultation with your managing physician. Genetic test results provide diagnostic information and do not constitute immediate therapeutic directives.
Exclusion Criteria & Urgent Clinical Indicators
- Active severe infection or acute inflammatory episode โ postpone sample collection until clinically stable.
- Inability to provide informed consent โ a legal guardian must be present for minors as per applicable UAE federal health regulations.
- Uncontrolled bleeding disorder โ contact us for alternate sample collection arrangements.
- Seek emergency care immediately if the patient develops high fever with rash, progressive joint deformity, or recurrent respiratory distress following blood draw. These symptoms are unrelated to the venipuncture and may indicate a disease flare requiring urgent medical intervention.
Patient FAQ & Clinical Guidance
1. What clinical conditions does the SH3PXD2B gene test help diagnose?
This advanced genetic test analyzes the SH3PXD2B gene to diagnose Frank-ter Haar syndrome, a rare autosomal recessive disorder presenting with skeletal abnormalities, craniofacial dysmorphism, and immunologic deficiencies. It is indicated for patients presenting with short stature, typical facial features, recurrent infections, and bone fragility. This test can clarify differential diagnoses such as Melnick-Needles syndrome or Rothmund-Thomson syndrome.
2. How is the test performed and what sample types are accepted?
A simple blood draw or a painless finger-prick on an FTA card provides sufficient DNA for whole-gene sequencing using NGS technology. We accept whole blood (3โ5 mL in EDTA tube), extracted high-quality DNA, or one drop of blood on an FTA card. Samples are collected safely at home by DHA-licensed phlebotomists between 8 AM and 11 PM, ensuring temperature-controlled cold-chain transport to our ISO-accredited laboratory.
3. What do my results mean for my family and future planning?
Identifying a biallelic pathogenic variant confirms the syndrome diagnosis and enables accurate carrier testing for siblings and parents. This information guides reproductive options through formal genetic counseling. A positive result should be followed by familial cascade screening; even unaffected carriers can pass the variant to offspring with a 25% recurrence risk per pregnancy. Our post-test genetic counseling session with Consultant Medical Genetics specialist Lina Osama Zaki Quteineh will help you understand these implications in depth.
UAE Regulatory & Data Privacy Adherence
Your Genetic Data is Protected by UAE Federal Law. This 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 strictly to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is processed locally within the UAE under strict confidentiality and ISO 9001:2015 certified quality management systems.
Clinical & Logistical Metadata
| Test Name | SH3PXD2B Gene (Frank-ter Haar Syndrome) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), FTA Card, or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq) |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE. |
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