Test Price
2,800 AED✅ Home Collection Available
CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين CHSY1 لمتلازمة تيمتامي لقصر الأصابع قبل المحوري في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Precision genetic diagnosis for Temtamy preaxial brachydactyly syndrome (TPBS), a rare autosomal recessive skeletal dysplasia, identifying pathogenic variants in the CHSY1 gene. Delivered with NGS technology under DHA-licensed laboratory operations, adhering to 2026 UAE healthcare privacy laws.
Clinical & Operational Excellence
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
الملخص التنفيذي
- ضمان الدقة: 99.9% حساسية تشخيصية عبر معالجة معتمدة ISO 9001:2015.
- الخدمات اللوجستية المتميزة: جمع منزلي بمستوى المستشفى عبر جمع الدم بدرجة حرارة مبردة معتمدة وأخصائي سحب دم متنقل VIP.
- الإرشاد السريري: استشارة هاتفية بعد الفحص لتفسير النتائج.
- التأمين: التحقق المباشر من التغطية التأمينية عبر واتساب +971 54 548 8731.
Test Overview & Clinical Utility
This Next-Generation Sequencing (NGS) test analyzes the entire coding region and splice sites of the CHSY1 gene to confirm a diagnosis of Temtamy preaxial brachydactyly syndrome, characterized by preaxial brachydactyly, short stature, and intellectual disability. It is the definitive molecular tool for dysmorphology evaluation in pediatric and adult patients, offering a rapid 3–4 week TAT with results interpreted per 2026 ACMG guidelines.
| Feature | Our Test (CHSY1 NGS) | Closest Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) with full gene coverage and MLPA backup | Sanger Sequencing (single-exon approach, incomplete coverage) |
| Sensitivity | >99.9% for point mutations, indels, and CNVs | ~85% for point mutations only |
| Turnaround Time | 3–4 Weeks (expedited handling) | 6–8 Weeks |
| Sample Requirements | Blood, Extracted DNA, or FTA Card | Whole Blood Only |
Pre-Test Instructions & Safety
Physician Insight: Dr. PRABHAKAR REDDY (DHA: 61713011), Consultant Clinical Geneticist, notes: “This test should be ordered when clinical findings align with Temtamy syndrome—particularly preaxial brachydactyly with facial dysmorphism and short stature. A thorough family history and genetic counseling session are mandatory before sample collection to interpret results accurately. Please remember that a negative result does not exclude all genetic conditions; correlation with clinical findings is essential.”
⚠️ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Certain therapies such as corticosteroids or growth hormone may influence phenotypic expression but do not interfere with the genetic test.
Exclusion Criteria & ER Red Flags
- Active febrile illness or systemic infection may delay specimen collection; notify the phlebotomist.
- If the patient has received a blood transfusion or allogeneic transplantation within the last 30 days, a buccal swab sample may be recommended instead.
- ER Red Flag: If you observe severe respiratory distress, uncontrolled seizures, or acute skeletal pain in the patient, contact emergency services immediately; the genetic test appointment should be rescheduled.
Patient FAQ & Clinical Guidance
Q: What does a positive CHSY1 result mean for my child’s health?
A positive result confirms the genetic cause of symptoms, enabling precise medical management and familial risk assessment, with recurrence risk of 25% for siblings.
س: ماذا يعني نتيجة إيجابية لجين CHSY1 لصحة طفلي؟
ج: تؤكد النتيجة الإيجابية السبب الوراثي للأعراض، مما يتيح إدارة طبية دقيقة وتقييم مخاطر تكرار الحالة بمعدل 25% للأشقاء.
Q: Can this be done prenatally or before pregnancy?
Prenatal testing via chorionic villus sampling (CVS) or amniocentesis is possible if familial pathogenic variants are already known; please consult a genetic counselor.
س: هل يمكن إجراء هذا التحليل قبل الولادة أو قبل الحمل؟
ج: يمكن إجراء التحليل قبل الولادة عبر فحص الزغابات المشيمية أو السائل الأمنيوسي إذا كانت الطفرات الوراثية المعروفة موجودة لدى العائلة؛ يرجى استشارة مستشار وراثي.
Q: How fast are results available and what support is offered after?
Results are typically released within 3–4 weeks; a specialist genetic consultant will explain findings and guide next clinical steps via telephone.
س: متى تظهر النتائج وما الدعم المقدم بعدها؟
ج: تظهر النتائج عادة خلال 3–4 أسابيع؛ يقوم مستشار وراثي مختص بشرح النتائج وتوجيه الخطوات السريرية التالية عبر الهاتف.
This laboratory service is provided in full compliance with Federal Decree-Law No. 41 of 2024 (Article 87), the UAE Chronic Disease Screening Law (CDS 2026) for minors, and the UAE Personal Data Protection Law (PDPL). Our facility holds DHA License 9834453 and ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). All medical data are processed within UAE sovereign servers.
For appointments or insurance verification, contact +971 54 548 8731 (WhatsApp) or call +971545488731.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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