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Test Price

2,800 AED

โœ… Home Collection Available

FMR1 Gene (Fragile X Tremor/Ataxia Syndrome) Genetic Test in UAE | 2800 AED | 99.9% Accuracy | 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 โ€“ available daily from 8 AM to 11 PM. Sample types: Whole Blood, Extracted DNA, or DNA FTA Card.

Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed Consultant Medical Geneticist.

Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Price: 2800 AED โ€“ includes test, genetic counselling session, and post-test counselling.

Test Overview & Methodology

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 (55โ€“200 repeats). Our sequencing covers the full gene, including AGG interruptions and methylation status, delivering a comprehensive genotype for clinical correlation.

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 Protocols

โ€œUnderstanding the genetic basis of tremor and balance issues offers clarity and direction for patients and families. This NGS test provides a definitive molecular diagnosis, but results must be interpreted alongside a thorough neurological examination and family history. Being identified as a premutation carrier does not mean a disease course is predestined โ€“ many individuals maintain a normal quality of life. Our team is committed to guiding you with empathy and precision.โ€

โ€” Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403

Pre-Test Safety & Mandatory Genetic Counselling

A genetic counselling session to draw a pedigree chart of family members affected with FMR1 gene-related disorders is mandatory before sample collection. No specific drug or supplement avoidance is required; however, continue prescribed medications unless advised otherwise by your doctor. Blood collection is performed using strict aseptic technique. FTA cards must be stored at room temperature and shipped within 24 hours.

Patient Safety Exclusion Criteria & ER Red Flags

  • Exclusion: Severe anaemia (Hb < 7 g/dL) or active bleeding disorder โ€“ 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 โ€“ 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 (55โ€“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.

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

The test 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.

3. What are the implications of a premutation result and what follow-up is needed?

A premutation result indicates a 55โ€“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.

UAE Regulatory & Data Privacy Adherence

Data Security & Compliance

Your genetic data is processed 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 results are encrypted end-to-end and accessible only to you and the ordering physician. Our laboratory adheres to ISO 15189 and CAP standards, ensuring the highest level of quality and confidentiality.

Clinical Safety & Consent โ€“ All procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent and ethical care.

Clinical & Logistical Metadata

Test Name FMR1 Gene (Fragile X Tremor/Ataxia Syndrome) Genetic Test (NGS)
Price (AED) 2,800
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Whole Blood, Extracted DNA, or DNA FTA Card
Methodology Used Next Generation Sequencing (NGS) with repeat-primed PCR confirmation
ICD-10-CM Code Z13.79 (Encounter for genetic screening)
LOINC Code 80135-6 (FMR1 gene CGG repeat analysis)
DHA Facility License & Address License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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