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Test Price

2,800 AED

✅ Home Collection Available

CCBE1 Gene Analysis (Hennekam Lymphangiectasia‑Lymphedema Syndrome Type 1) – Genetic Test in UAE | 2800 AED

Executive Summary & Core Metrics

The CCBE1 Gene Analysis utilises Next‑Generation Sequencing (NGS) to detect pathogenic variants in the CCBE1 gene with a diagnostic sensitivity exceeding 99.9%. This test confirms or excludes Hennekam lymphangiectasia‑lymphedema syndrome type 1, a rare hereditary lymphatic disorder. Clinical correlation with imaging and family history remains essential for definitive diagnosis.

  • 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 from 8 AM to 11 PM).
  • Clinical Guidance: Telephonic Post‑Test Clinical Guidance for result interpretation.
  • Insurance: Direct Billing Verification & Pre‑Approval via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The CCBE1 Gene NGS Test is a high‑precision genetic analysis that detects pathogenic DNA variants in the entire coding region of the CCBE1 gene. This molecular evaluation confirms the genetic aetiology of Hennekam lymphangiectasia‑lymphedema syndrome type 1, a rare autosomal recessive disorder characterised by lymphangiectasia, lymphedema, and variable intellectual disability. Testing is performed on the Illumina® platform with orthogonal Sanger confirmation for all clinically actionable variants.

Feature Our Test – CCBE1 NGS (Gold Standard) Closest Alternative (Research‑Grade Panel)
Precision 99.9% analytical sensitivity & specificity for full CCBE1 coding region Variable coverage; may miss deep intronic or regulatory mutations
Method Next‑Generation Sequencing (Illumina® platform) with Sanger confirmation Whole‑exome sequencing; requires additional bioinformatic filtering
Speed 3–4 Weeks with DHA‑aligned reporting 6–8 Weeks, often without clinical counselling

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics practising in Dubai, I confirm that NGS analysis of the CCBE1 gene provides definitive molecular evidence for Hennekam syndrome type 1 when correlated with clinical lymphoscintigraphy and abdominal imaging findings. A negative result does not exclude all lymphatic disorders, and multidisciplinary evaluation with a clinical geneticist is strongly recommended. Treatment decisions must always be guided by a physician; do not alter or stop any prescribed therapy without direct medical consultation.”

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

⚠️ Advisory – Medication & Clinical Safety

Never discontinue or modify prescribed medications, including anticoagulants, diuretics, or lymphatic therapies, without explicit guidance from your treating physician. Genetic test results provide diagnostic clarity but do not replace ongoing clinical monitoring. Sudden changes in limb size, colour, or pain level require immediate emergency assessment.

Exclusion Criteria & Red Flags

  • Exclusion: This test is not advised for individuals with active bleeding disorders or those unable to provide a stable venous blood sample or FTA card spot.
  • Exclusion: Not applicable for somatic (tumour‑only) mutation analysis; requires informed consent for germline testing per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
  • Red Flag: Acute onset of severe limb pain, fever, or erythema in an affected limb may indicate cellulitis or deep vein thrombosis – seek emergency care immediately.
  • Red Flag: New respiratory distress or protein‑losing enteropathy symptoms (severe diarrhoea, oedema) require urgent medical evaluation irrespective of genetic test status.

Patient FAQ & Clinical Guidance

1. What does the CCBE1 gene test actually detect?

This test identifies pathogenic DNA variants in the entire coding region of the CCBE1 gene, confirming the molecular cause of Hennekam syndrome type 1. Results guide family planning, surveillance for lymphangiectasia complications, and multidisciplinary care coordination.

2. How should I prepare for the specimen collection?

No fasting is required. A licensed phlebotomist will collect a venous blood sample or a dried blood spot on an FTA card at your home using our temperature‑controlled cold‑chain logistics. The procedure takes approximately 10 minutes.

3. What happens after I receive my result?

You will receive a comprehensive clinical report and a complimentary tele‑counselling session with our genetic counsellor to interpret the findings, discuss recurrence risks, and coordinate referrals to paediatricians, gastroenterologists, or lymphatic specialists as needed.

4. Is this test covered by my health insurance in the UAE?

Coverage varies by insurer and policy. Our team can verify your benefits and obtain pre‑approval via WhatsApp at +971 54 548 8731. Direct billing is available for participating plans.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and adheres to the highest standards of data protection and clinical safety. All genetic information is processed 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. Patient consent, data encryption, and secure archival protocols are strictly enforced to safeguard your privacy.

Clinical testing safety and informed consent procedures follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. Your genetic data will not be shared with third parties without your explicit written authorisation.

Clinical & Logistical Metadata

Test Name CCBE1 Gene Analysis (Hennekam Lymphangiectasia‑Lymphedema Syndrome Type 1)
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card)
Methodology Used Next‑Generation Sequencing (Illumina®) with Sanger Confirmation
ICD-10-CM Code Q87.8
LOINC Code 21636-6
DHA Facility License & Laboratory Address DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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