Test Price
2,800 AED✅ Home Collection Available
FTCD Gene Glutamate Formiminotransferase Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين FTCD لنقص ناقلة فورميمينو الغلوتامات في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي
- ضمان الدقة: حساسية تشخيصية بنسبة 99.9% عبر معالجة معتمدة من الأيزو 9001:2015.
- الخدمات اللوجستية المميزة: سحب منزلي بمعايير المستشفى من خلال سلسلة تبريد معتمدة من الأيزو وخدمة الفصد المتنقل VIP.
- الإرشاد السريري: استشارة هاتفية بعد الاختبار لتفسير النتائج مع أخصائي الجينات.
- التأمين: التحقق المباشر من تغطية التأمين عبر واتساب على الرقم +971 54 548 8731.
Test Overview & Bilingual Summary
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.
يكتشف هذا الاختبار الجيني لتسلسل جين FTCD الطفرات المسببة لنقص ناقلة فورميمينو الغلوتامات، ما يتيح تشخيصًا دقيقًا وتقييم المخاطر العائلية وإدارة الاستقلاب.
| 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 2026 guidelines with ClinVar cross‑referencing | Laboratory‑specific interpretation |
Physician Insight & Safety Protocol
“A genetic diagnosis opens the door to personalised medicine, but it is never a standalone answer. I always coordinate with metabolic dietitians and biochemical geneticists to translate a variant report into an actionable care plan. Your clinical history, family tree, and current metabolic status remain the cornerstone of safe decision‑making.”
— Dr. PRABHAKAR REDDY, DHA License 61713011
⚠ Medication Advisory: Do not discontinue any prescribed medication (e.g., anticonvulsants, folate supplements) without explicit consultation with your treating physician. Genetic test results do not replace therapeutic management of acute metabolic crises.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Inability to provide voluntary informed consent (or legal guardian consent for minors as per CDS Law 2026).
- Acute febrile illness or severe anaemia that contraindicates venepuncture.
- Known coagulopathy without prior medical clearance.
- Lack of pre‑test genetic counselling and signed pedigree documentation.
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, acidosis, or hypoglycaemia.
- Any acute neurological deterioration before test results are available.
Patient FAQ & Clinical Guidance
1. What is the FTCD gene test and why is it performed?
١. ما هو اختبار جين FTCD ولماذا يُجرى؟
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.
يُستخدم هذا الفحص لتأكيد التشخيص السريري، وتحديد حامل الطفرة، وتوجيه الاستشارة الوراثية العائلية والتخطيط العلاجي.
2. How should I prepare for the FTCD genetic test?
٢. كيف أستعد لإجراء اختبار جين FTCD؟
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.
يلزم عقد جلسة استشارة وراثية لتوثيق شجرة العائلة والحصول على الموافقة المستنيرة قبل سحب العينة.
3. How long do results take and what do they mean?
٣. كم يستغرق ظهور النتائج وماذا تعني؟
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 2026 guidelines. Pathogenic or likely pathogenic findings confirm the molecular diagnosis and are correlated with your clinical picture during a post‑ 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.
يصدُر التقرير خلال ٣ إلى ٤ أسابيع مع تصنيف الطفرات حسب إرشادات ACMG ويُفسَّر سريريًا عبر استشارة هاتفية.
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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