TBCE Gene Hypoparathyroidism‑Retardation‑Dysmorphism (HRD) Syndrome Genetic Test in UAE

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next‑Generation Sequencing (NGS) Laboratory 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 by DHA‑licensed Consultant Medical Genetics to support result interpretation and family counselling.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The TBCE gene HRD syndrome NGS test sequences the entire coding region of the TBCE gene, detecting pathogenic variants responsible for the rare autosomal recessive Sanjad‑Sakati syndrome. This analysis provides definitive molecular confirmation for patients presenting with hypoparathyroidism, developmental delay, and distinct facial dysmorphism, enabling precise family counselling and early endocrine management.

Feature	Our Test	Closest Alternative
Methodology	NGS + confirmatory Sanger	Single‑gene Sanger only
Diagnostic Yield	>99% sensitivity for point mutations & small indels	Limited to selected exons; may miss deep intronic changes
Turnaround	3–4 Weeks	5–6 Weeks
Price	AED 2800	AED 3200 (estimated)

Physician Insight & Safety Protocols

“Comprehensive genetic analysis of the TBCE gene provides definitive molecular diagnosis for families facing suspected HRD syndrome. A positive finding confirms the pathogenic basis and informs endocrine management and family planning; however, a negative result does not exclude the condition and must be integrated with thorough clinical evaluation and metabolic workup.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Advisory

Maintain all prescribed therapies including calcium and vitamin D supplementation unless explicitly advised otherwise by your managing physician. Unsupervised discontinuation may lead to critical electrolyte disturbances and severe hypocalcaemic events.

Exclusion Criteria & Safety Red Flags

Unable to provide a blood sample or buccal swab due to extreme agitation or medical contraindication.
Recent blood transfusion (<3 weeks) affecting DNA purity.
Current unstable cardiac or respiratory condition requiring emergency intervention.

Seek emergency care immediately if you or the child develop: seizures, tetany, muscle spasms, stridor, loss of consciousness, or significant mental status changes – these may indicate life‑threatening hypocalcaemia.

Patient FAQ & Clinical Guidance

1. What is the TBCE gene HRD syndrome test?

This test analyzes the entire TBCE gene coding sequence using next-generation sequencing to identify disease-causing variants linked to Sanjad‑Sakati syndrome, providing a definitive molecular diagnosis for hypoparathyroidism, intellectual disability, and dysmorphic features. The result aids in predicting disease course and planning tailored endocrine therapy.

2. How is the sample collected for this genetic test?

A DHA-licensed phlebotomist performs a painless home blood draw or collects a few drops of blood on an FTA card, adhering strictly to cold-chain protocols to guarantee DNA integrity. No fasting is required, and the procedure is suitable for children with appropriate parental consent.

3. How long do results take, and what support is provided afterward?

Results are delivered within 3 to 4 weeks, accompanied by a comprehensive laboratory report and a scheduled telehealth session with a DHA-licensed Consultant Medical Genetics for interpretation. Urgent findings are communicated within 48 hours, ensuring timely clinical decisions.

UAE Regulatory & Data Privacy Adherence

This 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 genetic data is encrypted, access‑controlled, and processed under strict confidentiality agreements. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name	TBCE Gene HRD Syndrome NGS Genetic Test
Price (AED)	2800
Turnaround Time	3–4 Weeks
Sample Type / Matrix	Peripheral Whole Blood or Buccal Swab
Methodology Used	Next-Generation Sequencing (NGS) with Sanger Confirmation
ICD-10-CM Code	Q87.8, E20.0
LOINC Code	81262-6
DHA Facility License & Laboratory Address	License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE