Test Price
2,800 AED✅ Home Collection Available
FMR1 Gene (Fragile X Tremor/Ataxia Syndrome) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين FMR1 (متلازمة الرعاش والترنح المرتبط بالكروموسوم X الهش) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy. Sample types: Whole Blood, Extracted DNA, or DNA FTA Card.
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
الملخص التنفيذي: يضمن هذا الفحص دقة تشخيصية بنسبة 99.9% من خلال مختبر معتمد وفق معايير ISO، مع إمكانية السحب المنزلي والتوجيه السريري بعد الفحص، وبما يتوافق مع قانون دولة الإمارات العربية المتحدة المرسوم بقانون اتحادي رقم 41 لسنة 2024 (المادة 87) وقانون خصوصية البيانات.
Specimen Handling & Pre-Test Information: A genetic counselling session to draw a pedigree chart of family members affected with FMR1 Gene Fragile X tremor/ataxia syndrome is mandatory. No specific drug or supplement avoidance is required; however, continue prescribed medications unless advised otherwise by your physician. Blood collection is performed using strict aseptic technique. FTA cards must be stored at room temperature and shipped within 24 hours.
Test Overview
The FMR1 gene NGS test detects trinucleotide repeat expansions (CGG) in the FMR1 gene, diagnosing Fragile X-associated tremor/ataxia syndrome (FXTAS) in premutation carriers (55–200 repeats). Our sequencing covers the full gene, including AGG interruptions and methylation status, delivering a comprehensive genotype for clinical correlation. (يغطي التحليل الجيني الكامل لجين FMR1 كافة التوسعات الثلاثية النيوكليوتيدية وحالة الميثيلية.)
Methodology Comparison
| Feature | Our NGS Test (FMR1 Gene) | Standard PCR + Southern Blot |
|---|---|---|
| Method | Next Generation Sequencing (NGS) with repeat-primed PCR confirmation | PCR amplification + Southern blot analysis |
| CGG Repeat Resolution | Precise sizing across full normal, premutation, and full mutation ranges; AGG interruption detection | Limited sizing accuracy for large expansions; AGG detection often absent |
| Methylation Status | Directly assessed | Southern blot only; longer hands-on time |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks typical |
| Clinical Sensitivity | >99.9% (analytical sensitivity) | ~95% in large expansions |
Physician Insight & Safety Protocol
“As a neurologist, I understand the anxiety a tremor or balance issue can cause. This NGS test offers a definitive genetic diagnosis, but results must always be correlated with your clinical picture. Please remember, a positive premutation does not guarantee disease progression; many with the premutation live without severe symptoms. We are here to guide you through every step.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Abrupt cessation of anti-tremor, antiepileptic, or psychiatric medications can lead to severe withdrawal symptoms or worsening of neurological status.
Patient Safety Exclusion Criteria & ER Red Flags
- Exclusion: Severe anaemia (Hb < 7 g/dL) or active bleeding disorder – home collection will be rescheduled.
- Exclusion: Recent blood transfusion within 2 weeks may interfere with germline analysis; consult our genetic counsellor.
- ER Red Flag: Sudden-onset severe tremor or gait ataxia with confusion or slurred speech – proceed immediately to the nearest emergency department.
- ER Red Flag: New psychiatric symptoms such as hallucinations or paranoia in a known premutation carrier require urgent neurological evaluation.
Patient FAQ & Clinical Guidance
1. What does the FMR1 gene test detect and who should consider it?
This NGS test precisely measures the CGG repeat number in the FMR1 gene to identify premutation carriers (55-200 repeats) at risk for Fragile X-associated tremor/ataxia syndrome (FXTAS). It is indicated for adults with progressive intention tremor, cerebellar ataxia, parkinsonism, or cognitive decline, especially those with a family history of Fragile X disorders. A neurology referral is recommended before testing.
يقيس هذا الفحص الدقيق عدد تكرارات CGG في جين FMR1 ويكشف عن حمَلة الطفور التمهيدي. يُوصى به للبالغين الذين يعانون من رعاش قَصدِي أو ترنح أو اضطرابات معرفية مع تاريخ عائلي.
2. How is the NGS test performed and what sample is required?
The requires a simple blood draw, one drop of blood on an FTA card, or previously extracted DNA; our DHA-certified phlebotomist collects the sample at your home using cold-chain transport. After DNA extraction, NGS libraries are prepared and sequenced on an Illumina platform with bioinformatic analysis focused on the FMR1 locus. Results are interpreted by a board-certified molecular geneticist and delivered within 3 to 4 weeks via secure portal.
يتم سحب عينة دم أو وضع نقطة دم على بطاقة FTA بواسطة فني معتمد من هيئة الصحة بدبي ويتم النقل بسلسلة تبريد. تُستخلص المادة الوراثية وتُجرى عملية التسلسل من الجيل التالي.
3. What are the implications of a premutation result and what follow-up is needed?
A premutation result indicates a 55-200 CGG repeat expansion; it does not mean you have FXTAS, but carriers are at lifetime risk for developing tremor/ataxia and should undergo regular neurological follow-up and genetic counselling. A positive result also has reproductive implications for family members, as the expansion can enlarge to a full mutation in offspring. Our telephonic clinical guidance will explain your specific repeat number, AGG interruption pattern, and personalised risk assessment.
يشير اكتشاف الطفرة التمهيدية إلى خطر مستقبلي للإصابة بمتلازمة الرعاش والترنح ويتطلب متابعة عصبية منتظمة واستشارة وراثية، حيث يمكن أن تتوسع الطفرة وتنتقل للأبناء.