Test Price
2,800 AED✅ Home Collection Available
FKTN Gene NGS Test for Fukuyama Congenital Muscular Dystrophy | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This test delivers precise, DHA‑approved Next Generation Sequencing of the entire FKTN gene, critical for definitive diagnosis of Fukuyama Congenital Muscular Dystrophy (FCMD) in infants and children. Clinical correlation is performed by DHA‑licensed medical geneticists, ensuring actionable results for families and physicians.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited NGS processing with AI‑assisted variant interpretation per ACMG/ClinGen guidelines.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post‑test genetic counselling with a DHA‑licensed Consultant Medical Geneticist for result interpretation and family planning.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731; government and major private insurances accepted.
Test Overview & Methodology
This NGS panel sequences the entire coding region and splice junctions of the FKTN gene to detect pathogenic variants causing Fukuyama Congenital Muscular Dystrophy (FCMD), a severe early‑onset neuromuscular disorder. Ideal for confirmatory diagnosis, carrier screening, and family planning within the UAE’s advanced genetic testing framework.
| Feature | Our FKTN NGS Test | Closest Alternative (Sanger / Single‑Gene) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full gene coverage (coding exons, splice sites, and deep intronic regions) | Limited to known hotspots; may miss novel or copy‑number variants |
| Methodology | Next Generation Sequencing (NGS) on Illumina platform with AI‑powered variant classification | Sanger sequencing of select exons; no copy‑number variation detection |
| Turnaround Time | 3–4 weeks from sample receipt | 4–6 weeks, often requiring multiple iterative rounds |
Physician Insight & Safety Protocols
“Fukuyama congenital muscular dystrophy is a devastating paediatric condition that demands the earliest possible genetic confirmation. This NGS test, performed on a simple blood draw, gives families clarity and directs appropriate supportive care,” explains Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403).
“Results must always be interpreted alongside clinical findings and neuroimaging; a negative report does not exclude other congenital muscular dystrophies or related dystroglycanopathies.”
“Pre‑test genetic counselling is mandatory to discuss implications for the child and the extended family, including recurrence risks and carrier status.”
Advisory & Medication Precautions
⚠ Important Safety Notice
Do not discontinue any prescribed medication, including anti‑epileptics, muscle relaxants, or nutritional supplements, without consulting your treating physician. This diagnostic test does not substitute for ongoing clinical management or emergency care.
Exclusion Criteria & Emergency Red Flags
- Neonate in acute respiratory distress or haemodynamic instability – stabilise before sample collection.
- Active seizure requiring emergency intervention; coordinate testing after seizure control.
- If the child exhibits severe hypotonia with feeding failure and recurrent aspiration, urgent inpatient evaluation takes priority.
- ER Red Flags: sudden loss of motor milestones, new‑onset stridor, or desaturation episodes – seek immediate medical care.
Patient FAQ & Clinical Guidance
1. What is the FKTN NGS test and who should consider it?
The FKTN NGS test detects disease‑causing mutations in the FKTN gene with 99.9% sensitivity, providing a definitive diagnosis of Fukuyama congenital muscular dystrophy. It is recommended for infants presenting with hypotonia, delayed motor milestones, or brain MRI abnormalities suggestive of FCMD, as well as for carrier screening in at‑risk couples with a family history of the condition.
2. How accurate is this NGS test compared to traditional genetic testing?
Achieving 99.9% diagnostic sensitivity, this DHA‑accredited NGS assay covers every coding exon and splice junction of FKTN, unlike older Sanger‑based methods that may miss novel, deep intronic, or copy‑number variants. Comprehensive coverage reduces the need for multiple sequential tests and delivers a definitive answer within 3–4 weeks.
3. How long do results take and what does the home collection process involve?
Results are ready in 3–4 weeks from sample receipt. A DHA‑licensed phlebotomist will visit your home between 8 AM and 11 PM with hospital‑grade, temperature‑controlled collection equipment to ensure sample integrity. A mandatory genetic counselling session is scheduled beforehand to document the family pedigree and obtain informed consent.
4. What does the pre‑test genetic counselling involve?
Pre‑test counselling is conducted by a DHA‑licensed Consultant Medical Geneticist who explains the test purpose, potential outcomes, carrier implications, recurrence risks, and limitations. This session ensures that families make an informed decision aligned with their values and medical needs.
UAE Regulatory & Data Privacy Adherence
Your Data & Safety Are Protected
- Data Protection: All genetic and personal data are 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.
- Clinical Safety: Patient consent and clinical governance follow Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring ethical and legally sound testing practices.
- Confidentiality: Results are encrypted and shared only with the referring physician and the patient or legal guardian through secure channels.
Clinical & Logistical Metadata
| Test Name | FKTN Gene NGS Test – Fukuyama Congenital Muscular Dystrophy |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube) |
| Methodology Used | Next Generation Sequencing (NGS) on Illumina platform with AI‑assisted variant classification per ACMG/ClinGen guidelines |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 94404-1 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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