Test Price
2,800 AED✅ Home Collection Available
FTCD Gene Glutamate Formiminotransferase Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Overview
- Diagnostic Accuracy: 99.9% analytical sensitivity via ISO 9001:2015 certified NGS workflow for full exonic coverage (±20 bp intronic boundaries).
- Sample Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Post-Test Counselling: Telephonic consultation with Consultant Medical Genetics to interpret variant classifications and familial implications.
- Insurance Support: Direct coverage verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FTCD gene NGS test provides comprehensive analysis of all coding exons and splice sites using next-generation sequencing, detecting pathogenic variants linked to glutamate formiminotransferase deficiency – a rare inborn error of histidine metabolism. Results guide clinical diagnosis, carrier detection, and familial risk assessment.
| Feature | Our Test (NGS Full Coverage) | Closest Alternative (Sanger Single Exon) |
|---|---|---|
| Precision / Coverage | 100% exonic ±20 bp intronic boundaries | Single-exon or hot-spot only |
| Methodology | Next-Generation Sequencing (Illumina platform) with bioinformatic tertiary analysis | Sanger sequencing |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks (limited scope) |
| Variant Classification | ACMG/AMP guidelines with ClinVar cross-referencing | Laboratory-specific interpretation |
Physician Insight & Safety Protocols
“A molecular diagnosis of FTCD deficiency provides the foundation for targeted metabolic management, but it must always be integrated with clinical history, biochemical markers, and familial pedigree analysis. I collaborate closely with metabolic dietitians and biochemical geneticists to ensure every variant report translates into a safe, actionable care pathway that respects the patient’s full clinical context.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or alter any prescribed therapy — including anticonvulsants, folate supplements, or metabolic modifiers — without explicit consultation with your treating physician. Genetic test results are for diagnostic guidance and do not replace acute medical management of metabolic crises.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Inability to provide voluntary informed consent (or legal guardian consent for minors under applicable UAE law).
- Acute febrile illness or severe anaemia that contraindicates venepuncture.
- Known coagulopathy without prior medical clearance.
- Lack of pre-test genetic counselling with documented pedigree and signed consent.
ER Red Flags – Seek Immediate Medical Attention If:
- Sudden onset of severe vomiting, lethargy, or altered consciousness.
- Unexplained seizures or hypotonia in a child.
- Signs of metabolic decompensation: hyperammonemia, metabolic acidosis, or hypoglycaemia.
- Acute neurological deterioration before genetic test results are available.
Patient FAQ & Clinical Guidance
1. What is the FTCD gene test and why is it performed?
The FTCD gene test sequences the entire FTCD gene to identify disease-causing variants for glutamate formiminotransferase deficiency.
This next-generation sequencing assay is indicated for patients with biochemical suspicion (elevated formiminoglutamate), unexplained neurological symptoms, or a positive family history of histidine metabolism disorder. Results are used to confirm a clinical diagnosis, guide dietary and pharmacological interventions, and support reproductive decision-making.
2. How should I prepare for the FTCD genetic test?
A genetic counselling session is required to draw a full family pedigree and understand inheritance patterns before sample collection.
You will attend a virtual or in-person counselling where a certified genetic counsellor records at least a three-generation pedigree, explains the possible outcomes (pathogenic, VUS, negative), and obtains your informed consent. No special dietary restrictions are needed for blood draw; if using a Dried Blood Spot (FTA) card, ensure the finger is clean and avoid heparinised tubes. Bring a comprehensive list of current medications, previous metabolic test results, and any relevant medical reports.
3. How long do results take and what do they mean?
Results are reported within 3 to 4 weeks and include a detailed interpretation of identified genetic variants.
Each report classifies variants as benign, likely benign, variant of uncertain significance (VUS), likely pathogenic, or pathogenic in accordance with ACMG guidelines. Pathogenic or likely pathogenic findings confirm the molecular diagnosis and are correlated with your clinical picture during a post-test tele-consultation. A negative result reduces the likelihood of FTCD-related disease but does not exclude other metabolic or genetic disorders. Carrier status and implications for other family members are clearly explained.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Governance Framework
- All genetic data is processed and stored in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring strict confidentiality, consent-based processing, and data subject rights.
- Health information systems and electronic medical records adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing secure transmission and storage of patient data.
- Clinical testing safety, patient consent procedures, and medical liability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring all diagnostic activities meet the highest standards of care.
- DNA Labs UAE holds DHA Facility License Number 1143 and operates under the regulatory oversight of the Dubai Health Authority and the UAE Ministry of Health and Prevention.
Clinical & Logistical Metadata
| Test Name | FTCD Gene Glutamate Formiminotransferase Deficiency Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full exonic coverage with ±20 bp intronic boundaries |
| ICD-10-CM Code | E72.8 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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