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Test Price

2,800 AED

✅ Home Collection Available

CCDC40 Gene Analysis (Primary Ciliary Dyskinesia Type 15) Genetic Test in UAE | 2800 AED

Executive Summary & Core Metrics

Executive Summary

This advanced next-generation sequencing (NGS) genetic test for the CCDC40 gene provides precise diagnosis of Primary Ciliary Dyskinesia Type 15, an autosomal recessive disorder affecting motile cilia function. The test is accredited under ISO 9001:2015 and offers a diagnostic sensitivity of 99.9% through comprehensive full-gene coverage including CNV detection. Premium home collection services via VIP mobile phlebotomy are available, with post-test clinical guidance from our consultant medical geneticist.

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM)
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by Consultant Medical Geneticist
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731

Test Overview & Methodology

The CCDC40 NGS test sequences the complete coding regions of the CCDC40 gene to diagnose primary ciliary dyskinesia type 15, an autosomal recessive disorder impairing motile cilia function, leading to chronic respiratory disease, recurrent otitis media, situs inversus, and infertility. Our methodology includes full gene coverage with CNV detection, enabling identification of large deletions and duplications missed by conventional Sanger sequencing.

Feature Our Test Closest Alternative
Methodology NGS with CNV detection & full gene coverage Single-gene Sanger sequencing (no CNV)
Turnaround Time 3–4 Weeks 6–8 Weeks
Diagnostic Sensitivity >99.9% ~95% (misses large deletions)
UAE Compliance DHA/MOHAP Standards, ISO 9001:2015 Varies

Physician Insight & Safety Protocols

"I understand the anxiety that accompanies genetic testing for a suspected hereditary condition. This test provides critical molecular confirmation to guide personalized management and family planning. Please interpret results in consultation with your geneticist or ENT specialist, as clinical correlation is essential."

— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403

Advisory Note

⚠ Important: Do not discontinue any prescribed medications without consulting your physician. Genetic results should be discussed with a qualified healthcare provider before making treatment decisions.

Exclusion Criteria

  • Active febrile illness (temporary deferral of blood draw)
  • Severe anemia or coagulation disorder (requires physician clearance)
  • Inability to provide consent for genetic testing
  • Sudden severe respiratory distress or pneumothorax (immediate ER referral)
  • Acute hearing loss or vertigo (requires urgent evaluation)

Patient FAQ & Clinical Guidance

1. What does the CCDC40 genetic test diagnose?

CCDC40 gene analysis confirms primary ciliary dyskinesia type 15 by detecting pathogenic variants in the motile cilia gene. This inherited disorder results in defective cilia that cause chronic sinusitis, recurrent chest infections, hearing loss, and in many cases, situs inversus (organ reversal). Results enable targeted therapies and family screening.

2. How is the sample collected and what preparation is needed?

A blood sample or DNA FTA card is collected painlessly by a certified phlebotomist at your home via VIP Mobile Phlebotomy. No fasting is required. Provide a detailed clinical history of respiratory and fertility symptoms, and a pre-genetic counseling session to construct a pedigree. Venous blood (3–5 mL) or one drop on an FTA card is acceptable.

3. How long to receive results and how are they delivered?

Results are typically available within 3 to 4 weeks, delivered through a secure DHA-compliant portal. A telephonic consultation with a clinical geneticist is arranged to interpret the findings. Urgent preliminary reports can be requested for critical clinical decisions.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance

This test is conducted in full compliance with the UAE's 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 genetic data is handled under strict confidentiality and security protocols. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds DHA Facility License No. 1143 and operates under ISO 9001:2015 quality management standards.

Clinical & Logistical Metadata

Test Name CCDC40 Gene Analysis (Primary Ciliary Dyskinesia Type 15) NGS
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral whole blood (3–5 mL) or FTA card; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available
Methodology Used Next-Generation Sequencing (NGS) with CNV detection
ICD-10-CM Code Q34.8 (Other specified congenital malformations of respiratory system)
LOINC Code 21665-6 (Gene mutations identified in Blood or Tissue by Sequencing)
DHA Facility License & Laboratory Address DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE

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All reports reviewed by DHA-Certified physicians