Test Price
2,800 AED✅ Home Collection Available
SH3PXD2B Gene (Frank-ter Haar Syndrome) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين SH3PXD2B (متلازمة فرانك-تر هار) الجيني الشامل في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
DHA APPROVED 99.9% Diagnostic Sensitivity
ISO Accredited Processing – Every SH3PXD2B mutation detected via ultra-deep NGS with analytical validation exceeding 99.9% sensitivity and specificity.
🚑 Premium Hospital-Grade Home Collection
VIP mobile phlebotomy with ISO-certified cold-chain logistics. Blood, FTA card, or extracted DNA collected at your doorstep across all 7 emirates, 8 AM – 11 PM.
📞 Post-Test Clinical Guidance
Telephonic interpretation by board-certified genetic counselors to explain results, risk assessment, and family planning implications.
🔒 Direct Insurance Billing
Verify your coverage instantly via WhatsApp at +971 54 548 8731. We handle all paperwork.
Comprehensive SH3PXD2B Gene Sequencing – Overview
This test uses Next-Generation Sequencing (NGS) to identify pathogenic variants in the SH3PXD2B gene, confirming Frank-ter Haar syndrome—a rare autosomal recessive disorder characterised by craniofacial dysostosis, skeletal dysplasia, and primary immunodeficiency. القيمة تضيف: يوفّر التشخيص الجيني الدقيق الوضوح للعائلات، ويمكّن من الإدارة الطبية الاستباقية والفحص المبكر للأشقّاء.
| Feature | Our NGS Test (UAE) | Standard Sanger Sequencing (Abroad) |
|---|---|---|
| Precision | 99.9% sensitivity, full gene coverage | ~95%, single exon focus |
| Methodology | NGS (Illumina NovaSeq) – detects SNVs, indels, CNVs | Sanger sequencing – limited to point mutations |
| Turnaround | 3–4 Weeks | 6–8 Weeks (incl. shipping) |
| Data Privacy | UAE PDPL-compliant local processing | Sent outside jurisdiction, minimal control |
Physician Insight & Critical Safety Guidance
“As a clinician, I’ve seen how a definitive genetic diagnosis can transform a family’s journey from uncertainty to proactive care. However, no single test replaces a thorough clinical evaluation—always correlate results with physical findings and immunological workup. Test results must be shared in a genetic counselling context.”
— Dr. Prabhakar Reddy, DHA License: 61713011
🛑 Medication Warning
Do not discontinue any prescribed medication, including immunosuppressants or corticosteroids, without consulting your treating physician. Genetic testing does not provide immediate therapeutic guidance.
Exclusion Criteria & ER Red Flags:
- Active severe infection or acute inflammatory episode (postpone collection until stable).
- Inability to provide informed consent (guardian must be present for minors as per UAE CDS Law 2026).
- Uncontrolled bleeding disorder – contact us for alternate sample arrangements.
- Seek emergency care if the patient develops high fever with rash, progressive joint deformity, or recurrent respiratory distress after drawing blood; these are unrelated to the test draw but indicate disease flares.
Patient FAQ & Clinical Guidance
1. What clinical conditions does the SH3PXD2B gene test help diagnose?
Snippet: This advanced Genetic Test analyzes the SH3PXD2B gene to diagnose Frank-ter Haar syndrome, a rare autosomal recessive disorder presenting with skeletal, craniofacial, and immunologic abnormalities. It is indicated for patients with short stature, facial dysmorphism, recurrent infections, and bone fragility, and can clarify differential diagnoses like Melnick-Needles or Rothmund-Thomson syndromes.
ما هي الحالات السريرية التي يساعد تحليل جين SH3PXD2B في تشخيصها؟
اقتطاف: يحلل هذا الاختبار الجيني المتقدم الجين SH3PXD2B لتأكيد متلازمة فرانك-تر هار، وهو اضطراب وراثي جسمي متنحٍ نادر يتسم بخلل التنسج العظمي والوجهي ونقص المناعة. يُستطب للمرضى الذين يعانون من قصر القامة وعدوى متكررة وهشاشة العظام، ويساعد في تمييزه عن متلازمات مشابهة مثل ميلنيك-نيدلز.
2. How is the performed and what sample types are accepted?
Snippet: 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 (3–5 mL in EDTA), extracted DNA, or one drop of blood on an FTA card, collected safely at home by DHA-licensed phlebotomists between 8 AM and 11 PM.
كيف يُجرى الاختبار وما هي أنواع العينات المقبولة؟
اقتطاف: يتم سحب عينة دم بسيطة أو وخز إصبع غير مؤلم على بطاقة FTA للحصول على حمض نووي كافٍ لتسلسل الجين الكامل بتقنية NGS. نقبل الدم الكامل أو الحمض النووي المستخلص أو قطرة دم واحدة على بطاقة FTA، تُجمع في المنزل بأمان بواسطة مسعفين مرخصين من هيئة الصحة بدبي.
3. What do my results mean for my family and future planning?
Snippet: Identifying a biallelic pathogenic variant confirms the syndrome and enables accurate carrier testing for siblings and parents, guiding reproductive options via genetic counselling. A positive result should be followed by familial screening; even unaffected carriers can pass the variant to offspring with a 25% recurrence risk per pregnancy.
ماذا تعني نتائجي لعائلتي وتخطيطي المستقبلي؟
اقتطاف: يؤكد وجود طفرة مرضية ثنائية النسخة المتلازمة، ويتيح اختبار الحاملين للأشقاء والوالدين، مما يوجه خيارات الإنجاب عبر الاستشارة الوراثية. النتيجة الإيجابية تستوجب فحصًا عائليًا؛ حتى الحاملون غير المصابين يمكنهم نقل الطفرة باحتمال تكرار 25% لكل حمل.
This service complies with Federal Decree-Law No. 41 of 2024 (Art. 87) on medical advertising, UAE PDPL for genetic data, and CDS Law 2026 for minors. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). All clinical content reviewed by Dr. Prabhakar Reddy (DHA 61713011).
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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All reports reviewed by DHA-Certified physicians