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Test Price

4,000 AED

โœ… Home Collection Available

Cystic Fibrosis CFTR Full Gene Sequence Analysis โ€“ Comprehensive NGS Diagnostic Test in Dubai

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Next-Generation Sequencing.
  • Premium Logistics: VIP Mobile Phlebotomy with temperature-controlled cold-chain home collection (daily 8 AM โ€“ 11 PM). For prenatal diagnosis via amniotic fluid, hospital extraction is required.
  • Clinical Guidance: Telephonic post-test result interpretation with a Consultant Medical Geneticist.
  • Direct Billing Support: Insurance verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

Cystic Fibrosis CFTR full gene sequence analysis employs Next-Generation Sequencing (NGS) to interrogate all coding regions, intronic boundaries, and regulatory elements of the CFTR gene. This comprehensive assay detects point mutations, small insertions/deletions, and copy number variations. It is indicated for confirming cystic fibrosis diagnosis, carrier screening, prenatal genetic assessment, and guiding targeted therapy decisions such as CFTR modulator eligibility.

The test is performed on peripheral whole blood or amniotic fluid specimens under strict ISO 15189 accredited laboratory protocols. Results are reported with variant classification per ACMG/AMP guidelines.

Feature Our Test (CFTR Full Gene NGS) Closest Alternative (Targeted Mutation Panel)
Methodology Next-Generation Sequencing (whole gene, including introns & regulatory regions) Targeted panel covering 50โ€“100 common CFTR mutations
Analytic Sensitivity 99.9% (full gene coverage, rare variant detection) ~90% (misses uncommon and novel mutations)
Turnaround Time 4 โ€“ 6 weeks 2 โ€“ 3 weeks
Regulatory Compliance DHA/MOHAP compliant, ISO 15189 accredited Varies by laboratory

Physician Insight & Safety Protocols

"CFTR full gene sequencing represents the gold standard for definitive cystic fibrosis diagnosis and carrier detection. The comprehensive nature of NGS ensures that rare and private mutations are not overlooked. However, every genetic finding must be interpreted within the full context of clinical presentation, sweat chloride testing, and family history. Pre-test and post-test genetic counselling is not optional โ€” it is an integral part of responsible genomic medicine. Our team is dedicated to guiding each patient and referring physician through every step with clarity and compassion."

โ€” Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Advisory

Do not alter, pause, or discontinue any prescribed therapy โ€” including CFTR modulators, pancreatic enzymes, or inhaled medications โ€” without explicit consultation with your managing physician. Laboratory results complement clinical decision-making; they do not replace it.

Patient Safety Exclusion & Red Flag Guidance

Exclusion Criteria

  • Active febrile illness or systemic infection at the time of blood draw.
  • Known allergy to antiseptic solutions (chlorhexidine, iodine) used in phlebotomy.
  • Inability to provide informed consent or absence of a legal guardian.
  • For amniocentesis: active uterine infection, cervical insufficiency, or unexplained vaginal bleeding.

Emergency Red Flags

  • Persistent bleeding or haematoma at the puncture site unresponsive to pressure.
  • Fever, erythema, purulent discharge, or increasing pain at the collection site.
  • Post-amniocentesis: fluid leakage, severe abdominal pain, or vaginal bleeding โ€” seek emergency care immediately.

Patient FAQ & Clinical Guidance

1. What is CFTR full gene sequencing and why is it recommended over a targeted panel?

CFTR full gene sequencing reads every exon, intron boundary, and regulatory region of the CFTR gene. Unlike targeted panels that only check for the most common mutations found in specific populations, full gene sequencing detects rare, novel, and private mutations. This is essential for accurate diagnosis in ethnically diverse populations, carrier screening for couples with mixed ancestry, and identifying candidates for CFTR modulator therapies such as ivacaftor, lumacaftor, and tezacaftor.

2. What sample types are accepted and how should I prepare?

The primary specimen is peripheral whole blood (5โ€“10 mL in EDTA tube) collected via routine venipuncture. For prenatal diagnosis, amniotic fluid must be collected by a qualified obstetrician in a hospital setting. No fasting or special preparation is required for blood collection. A valid physician prescription is mandatory for all testing. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM with temperature-controlled cold-chain transport. Amniotic fluid collection is strictly a hospital-based procedure.

3. When will I receive results and how are they interpreted?

Results are available in 4 to 6 weeks from sample receipt. A detailed report is issued by our Consultant Medical Geneticist, classifying each detected variant according to ACMG/AMP guidelines: pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, or benign. A mandatory post-test telephonic consultation is scheduled to explain the findings, discuss implications for the patient and family members, and coordinate with your referring physician for integrated clinical management.

4. Is genetic counselling included with this test?

Yes, genetic counselling is an integral component of this service. Pre-test counselling is offered prior to sample collection to discuss the scope of testing, potential outcomes including incidental findings, and implications for family members. Post-test counselling is scheduled upon result delivery to review clinical significance, carrier status, reproductive options, and treatment pathways. This ensures fully informed decision-making throughout the testing journey.

5. Does insurance cover this test and how do I verify my coverage?

Coverage varies by insurance provider and policy. DNA Labs UAE offers direct billing for most major UAE health insurers. To verify your specific coverage, please send a photo of your insurance card via WhatsApp to +971 54 548 8731. Our billing team will confirm eligibility, co-pay amounts, and any pre-authorisation requirements before sample collection.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA Facility License Number 1143) and adheres to all applicable UAE federal laws governing medical data privacy and diagnostic testing. Patient genetic data is processed and stored in 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 clinical procedures, patient consent protocols, and professional liability frameworks conform to Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic information is treated with the highest degree of confidentiality and is never shared with third parties without explicit patient consent.

Clinical & Logistical Metadata

Test Name Cystic Fibrosis CFTR Full Gene Sequence Analysis (NGS)
Price (AED) 4,000 AED
Turnaround Time 4 โ€“ 6 weeks from sample receipt
Sample Type / Matrix Peripheral whole blood (EDTA) โ€“ VIP Mobile Phlebotomy eligible; Amniotic fluid โ€“ Hospital Extraction Only โ€“ Sample collection is conducted strictly within an accredited hospital facility; mobile home phlebotomy is disabled for safety
Methodology Used Next-Generation Sequencing (NGS) โ€“ Whole gene, coding exons, intronic boundaries, CNV detection
ICD-10-CM Code E84.9 (Cystic fibrosis, unspecified)
LOINC Code 94219-8 (CFTR gene full mutation analysis in Blood or Tissue by Molecular genetics method)
DHA Facility License & Address License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.

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ISMS 27001:2022

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ISO Accredited

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All reports reviewed by DHA-Certified physicians