Test Price
2,800 AED✅ Home Collection Available
CNTN1 Gene Genetic Test (Compton-North Congenital Myopathy) in UAE – 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited NGS platform; every variant confirmed with orthogonal methods if required.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post‑test clinical guidance to help you and your doctor interpret results in the context of your personal and family history.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
- Price: 2,800 AED – all‑inclusive (laboratory analysis, biopsy processing, clinical report, and post‑test counselling).
Test Overview & Methodology
This targeted NGS test analyzes the entire coding region of the CNTN1 gene to detect causative variants for Compton‑North congenital myopathy, a rare early‑onset muscle disorder. The methodology employs high‑depth next‑generation sequencing (Illumina NovaSeq) with Sanger confirmation of all clinically significant variants. Results are typically ready in 3–4 weeks, providing one of the fastest definitive molecular diagnoses available in the UAE.
| Feature | Our CNTN1 NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision for CNTN1 | 100% coverage of all coding exons ±10 bp, >99.9% sensitivity | 98–99% coverage; may miss deep intronic or regulatory variants |
| Methodology | Targeted high‑depth NGS (Illumina NovaSeq) with Sanger confirmation | Exome capture + NGS; incidental findings require additional consent |
| Turnaround Time | 3–4 weeks | 6–12 weeks |
| Clinical Report | Gene‑specific, ACMG‑classified variant, genetic counselling note | Broad, may require secondary analysis for single gene |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403), notes: “This NGS test provides powerful molecular confirmation for Compton‑North congenital myopathy, but it must always be correlated with detailed neurological examination, muscle MRI/EMG, and a thorough family pedigree. Genetic diagnosis is a piece of the clinical puzzle; it does not replace the compassionate judgment of your treating physician.”
Advisory: Medication and Treatment Guidance
Do not discontinue or adjust any prescribed medication without consulting your supervising physician. Genetic test results inform long‑term management but do not provide immediate therapeutic directives. Always maintain your current treatment regimen unless explicitly altered by your specialist.
Exclusion Criteria & Red Flags
- Exclusion: Inability to provide informed consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability (legal guardian required for minors). Recent blood transfusion or allogeneic stem cell transplant within 2 weeks may compromise DNA purity; inform our team before collection.
- Exclusion: Active severe infection affecting white blood cell count may lead to suboptimal DNA yield; reschedule if febrile >38.5°C.
- Red Flag: If you or your child experience sudden profound muscle weakness, swallowing difficulty, or respiratory distress, seek emergency care immediately – these are not typical complications of blood draw but could signal disease progression.
- Red Flag: Unexpected findings (e.g., variants of uncertain significance, incidental secondary findings) will be reported responsibly; follow‑up genetic counselling is mandatory per UAE medical liability law for minors.
Patient FAQ & Clinical Guidance
1. What does the CNTN1 NGS test reveal, and why is it needed?
The CNTN1 NGS test detects pathogenic variants causing Compton‑North congenital myopathy, confirming the diagnosis at a molecular level and guiding precise genetic counselling. It is recommended when clinical signs (neonatal hypotonia, facial weakness, delayed motor milestones) and family history suggest this specific myopathy.
2. How long do results take, and what happens after I receive them?
You will receive your definitive report in 3–4 weeks, after which a complimentary telephonic post‑test guidance session with a DHA‑licensed genetic specialist is scheduled to interpret the findings. The report includes ACMG variant classification, clinical significance, and explicit recommendations for follow‑up with your neurologist or paediatrician.
3. Is home blood collection available, and is it safe for newborns?
Yes, our DHA‑accredited mobile phlebotomy team offers hospital‑grade home collection from 8 AM to 11 PM daily, using paediatric butterfly needles ideal for neonates and adhering to strict cold‑chain protocols to preserve DNA integrity. All procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability for consent, with legal guardian approval required for minors.
4. What is the price and what does it include?
The all‑inclusive price is 2,800 AED covering laboratory analysis, biopsy processing, clinical report, and post‑test genetic counselling. Insurance pre‑authorisation is available via our WhatsApp line.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance
DNA Labs UAE operates under DHA Facility License 1143 and adheres to the 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 genetic data is encrypted, stored securely, and never shared without your explicit consent. Clinical safety and informed consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CNTN1 Gene Genetic Test (Compton-North Congenital Myopathy) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Targeted high‑depth NGS (Illumina NovaSeq) with Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | G71.2 (Congenital myopathy) |
| LOINC Code | 56267-3 (CNTN1 gene analysis) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians