Test Price
2,800 AED✅ Home Collection Available
IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary – Core Diagnostic Value
This advanced Next-Generation Sequencing (NGS) test analyzes the entire coding region of the IFT172 gene to diagnose Short-Rib Thoracic Dysplasia Type 10 (SRTD10) with or without polydactyly, a rare skeletal ciliopathy. Our ISO 9001:2015 certified laboratory ensures 99.9% diagnostic sensitivity, supported by hospital-grade home collection, temperature-controlled cold-chain logistics, and post-test telephonic clinical guidance. 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.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The assay employs next-generation sequencing (Illumina platform) to cover all coding exons and splice junctions of the IFT172 gene. Variants are classified according to ACMG/AMP guidelines, and results are correlated with clinical phenotype to provide definitive molecular diagnosis for SRTD10. The test is indicated for neonates and children presenting with short ribs, narrow thorax, and polydactyly, enabling early multidisciplinary management including respiratory support and orthopedic follow-up.
| Feature | Our Test (NGS Panel) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity & specificity | ~98% sensitivity, limited to known variants |
| Method | Full gene sequencing via NGS (Illumina platform) | Single-exon amplification (biased analysis) |
| Speed | 3–4 weeks with expedited reporting options | 6–8 weeks typical |
Physician Insight & Safety Protocols
“A precise molecular diagnosis of IFT172-related skeletal dysplasia is the cornerstone of informed neonatal care. The integration of NGS results with clinical findings—such as thoracic dimensions and associated polydactyly—enables our team to initiate early respiratory support and coordinate with pediatric orthopedics. This test empowers clinicians to move beyond symptom management toward a targeted, genetically guided treatment plan. Post-test genetic counseling is essential for families.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication without consulting your doctor. This diagnostic test provides genetic clarification and should not replace ongoing clinical management. Any therapy adjustments must be made under direct medical supervision.
Exclusion Criteria & ER Red Flags
- Exclusion Criteria: Inability to provide a valid clinical history or pedigree; missing informed consent from legal guardian (mandatory for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- ER Red Flags: If the patient develops severe respiratory distress, cyanosis, or apneic episodes, seek immediate emergency care—do not wait for test results.
- Post-Test Action: A pathogenic variant in IFT172 necessitates urgent referral to pediatric pulmonology and a skeletal dysplasia clinic.
Patient FAQ & Clinical Guidance
1. How long does it take to receive the IFT172 gene test result?
Your complete genetic report is typically available within 3 to 4 weeks from sample receipt, using our validated NGS pipeline and expert clinical interpretation. For urgent neonatal cases, we offer expedited processing upon request.
2. Is home blood collection available in Dubai and Abu Dhabi for this test?
Yes, our DHA-licensed phlebotomists provide hospital-grade home collection throughout Dubai, Abu Dhabi, and all Northern Emirates from 8 AM to 11 PM, with temperature-controlled cold-chain logistics ensuring sample stability. Simply WhatsApp +971 54 548 8731 to schedule.
3. Will my insurance cover the 2800 AED cost for this genetic test?
Many UAE insurers partially or fully reimburse this clinically indicated genetic test when ordered by a pediatrician or clinical geneticist; we provide direct billing verification via WhatsApp at +971 54 548 8731, and you will receive a pre-authorization status before sample collection. Self-pay options are also available.
UAE Regulatory & Data Privacy Adherence
This test is performed under the regulatory oversight of the Dubai Health Authority (DHA). Patient data is processed 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. All results are encrypted and accessible only to the ordering physician and the patient through a secure portal. Informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability is obtained prior to sample collection.
Clinical & Logistical Metadata
| Test Name | IFT172 Gene Sequencing for Short-Rib Thoracic Dysplasia Type 10 (with or without Polydactyly) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (expedited available) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Buccal Swab (neonates) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina Platform |
| ICD-10-CM Code | Q77.2, Q87.0 |
| LOINC Code | 94035-0 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians