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Test Price

2,800 AED

✅ Home Collection Available

CBFB Gene Skeletal Abnormalities Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
  • 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.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

CBFB Gene Skeletal Abnormalities Genetic Test identifies pathogenic variants in the core‑binding factor beta subunit gene using Next‑Generation Sequencing, aiding the diagnosis of congenital skeletal dysplasias and dysmorphology.

Parameter Our Test – CBFB NGS Closest Alternative
Precision 99.9% Sensitivity, full gene coverage Sanger sequencing may miss copy number variants
Method Next‑Generation Sequencing (NGS) Endpoint PCR / Sanger
Turnaround Time 3–4 Weeks 4–6 Weeks, limited bioinformatics
Sample Options Peripheral Whole Blood, Extracted DNA, One‑drop FTA Card Blood only
Counselling Pre‑ & Post‑Test Genetic Counselling Included Often not included

Physician Insight & Safety Protocols

"As a Consultant Medical Geneticist (DHA: 9294403), I emphasize that CBFB NGS results must be contextualized within a comprehensive dysmorphology assessment and three‑generation pedigree. A negative report does not exclude a clinical diagnosis, and all molecular findings require careful phenotype correlation."

— Lina Osama Zaki Quteineh, DHA‑Licensed Consultant Medical Genetics

Advisory Note: Medication and Test Dependency

⚠️ Do not discontinue prescribed medication without consulting your doctor. This genetic test is not a replacement for urgent clinical evaluation. Always follow your physician’s guidance regarding treatment modifications.

Exclusion Criteria & Emergency Red Flags

  • Patients without a pre‑test genetic counselling session (pedigree drawing) cannot be processed under UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability.
  • Home collection is not performed if the patient presents acute respiratory distress, cyanosis, or uncontrolled seizure activity.
  • Results should never be used in isolation to make surgical or therapeutic decisions; always seek specialist paediatric or geneticist input.
  • Red Flags requiring immediate emergency care: rapid progression of limb deformity, severe feeding difficulties in neonates, acute bone pain with swelling, or suspected pathological fracture.

Patient FAQ & Clinical Guidance

1. What is the CBFB gene and why test for skeletal abnormalities?

Snippet: CBFB provides instructions for a protein that partners with RUNX transcription factors to control bone and cartilage development; mutations can cause skeletal dysplasias.

Testing via NGS identifies pathogenic variants across the entire coding region, enabling confirmation of a clinical diagnosis like cleidocranial dysplasia‑spectrum disorders, guiding treatment and family planning.

2. How is the NGS test performed and what sample is needed?

Snippet: A simple blood draw, a drop of blood on FTA card, or previously extracted DNA is all that is required for the test.

Our phlebotomy team collects the sample in your home using a cold‑chain protocol; the DNA is then sequenced with 100x depth to ensure reliable variant calling.

3. How long do results take and how will I receive them?

Snippet: Results are ready in 3 to 4 weeks, and a secure report is sent with telephonic post‑test guidance from our clinical team.

The final report includes variant interpretation according to ACMG guidelines, clinical correlation notes, and a scheduled call with a genetic counsellor to discuss implications.

UAE Regulatory & Data Privacy Adherence

This genetic test is performed 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 patient data is encrypted, access‑controlled, and handled strictly according to UAE data protection regulations. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Results must be interpreted by a DHA‑licensed geneticist.

Clinical & Logistical Metadata

Test Name CBFB Gene Skeletal Abnormalities Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral Whole Blood, One‑drop FTA Card, Extracted DNA
Methodology Used Next‑Generation Sequencing (NGS)
ICD-10-CM Code Q78.8
LOINC Code 81247-9
DHA Facility License & Address License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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Available in Arabic, English, Hindi & Urdu

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All reports reviewed by DHA-Certified physicians