Test Price
2,800 AEDโ Home Collection Available
IFT43 Gene Cranioectodermal Dysplasia Type 3 Genetic Test in UAE โ 2,800 AED
Executive Summary & Core Metrics
This advanced NGS test provides definitive diagnosis of cranioectodermal dysplasia type 3, a rare ciliopathy caused by mutations in the IFT43 gene. Our ISO-accredited laboratory ensures 99.9% diagnostic sensitivity, with results in 3โ4 weeks and telephonic clinical guidance for result interpretation.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 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
This next-generation sequencing test analyzes the entire coding region of the IFT43 gene to detect pathogenic variants associated with cranioectodermal dysplasia type 3 (CED3), a rare ciliopathy characterized by skeletal, ectodermal, and renal anomalies.
| Feature | Our IFT43 NGS Test | Whole Exome Sequencing (Closest Alternative) |
|---|---|---|
| Precision | Targeted 100% coverage of IFT43 coding exons ยฑ20 bp flanking regions | Genome-wide, may miss deep intronic or copy number variants |
| Method | NGS with orthogonal Sanger confirmation | Exome capture + NGS |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Price (AED) | 2,800 | ~5,000โ7,000 |
| Interpretation | Focused clinical report with variant classification per ACMG guidelines | Broad, may identify incidental findings |
Physician Insight & Safety Protocols
โThe IFT43 NGS test is a precise diagnostic tool for cranioectodermal dysplasia type 3, allowing early intervention and family counseling. As a geneticist, I stress that clinical correlation with dysmorphology assessment and imaging is essential to confirm the diagnosis and guide management. Results should always be interpreted within the full clinical context.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Safety & Medication Advisory
Do not discontinue prescribed medication without consulting your doctor.
Patients should inform their physician of all medications before testing. This test does not replace ongoing medical treatment or emergency care. If you experience severe symptoms, seek immediate medical attention.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria: Patients with severe anemia (Hb < 7 g/dL) precluding safe blood draw, minors without legal guardian consent, or individuals with acute febrile illness should postpone the test. This test is not a substitute for emergency care.
ER Red Flags: If your child develops sudden neurological decline (seizures, altered consciousness), severe respiratory distress, or signs of acute renal failure (drastic decrease in urine output, swelling), seek immediate emergency medical attentionโdo not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. Who should consider the IFT43 gene cranioectodermal dysplasia NGS test?
Snippet: This test is recommended for children with characteristic facial dysmorphism, skeletal anomalies, and ectodermal defects.
Clinical indications include short stature, craniosynostosis, narrow thorax, dental abnormalities, sparse hair, and progressive renal disease. A board-certified geneticist or pediatrician should evaluate the patient first.
2. How long does it take to receive results?
Snippet: Results are typically available within 3 to 4 weeks after the sample reaches our laboratory.
The process includes DNA extraction, library preparation, next-generation sequencing on Illumina platforms, bioinformatics analysis, and Sanger confirmation of pathogenic variants. Turnaround time may vary if re-extraction or family segregation analysis is required.
3. Does insurance cover this genetic test in the UAE?
Snippet: We provide direct billing verification to your insurance via WhatsApp at +971545488731 for pre-authorization.
Coverage depends on your policy; many UAE insurers cover diagnostic genetic testing when medically necessary and ordered by a physician. Our team will assist with the necessary documentation, including the ICD-10 code Q87.89 and letter of medical necessity.
UAE Regulatory & Data Privacy Adherence
This laboratory complies with all applicable UAE federal laws for health data protection and patient privacy, including 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 medical information is processed securely and confidentially in accordance with DHA regulatory standards.
Clinical & Logistical Metadata
| Test Name | IFT43 Gene Sequencing for Cranioectodermal Dysplasia Type 3 |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 82939-0 |
| DHA Facility License & Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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