Test Price
2,800 AED✅ Home Collection Available
CHRNA1 Gene Analysis for Lethal Multiple Pterygium Syndrome – NGS Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Test Identity
CHRNA1 Gene Sequencing (NGS) for Lethal Multiple Pterygium Syndrome
Price
2,800 AED (including genetic counseling)
Turnaround Time
3–4 weeks (expedited available for prenatal cases)
Specimen Requirements
Peripheral whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card)
Methodology
Illumina NovaSeq NGS with full gene coverage and CNV detection
Diagnostic Sensitivity
99.9% analytical sensitivity via ISO-accredited processing
Sample Collection
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM)
Insurance
Direct billing verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The CHRNA1 gene analysis employs next-generation sequencing to detect pathogenic variants in the cholinergic receptor nicotinic alpha 1 subunit gene. This test confirms lethal multiple pterygium syndrome (LMPS) and provides critical information for family planning and recurrence risk assessment. Full gene sequencing combined with copy number variant (CNV) detection ensures comprehensive coverage of all coding exons and flanking intronic regions.
| Feature | Our Test (Precision NGS) | Competitor Alternative |
|---|---|---|
| Precision / Coverage | Full gene sequencing with CNV detection; 99.9% analytical sensitivity | Targeted mutation panel; may miss rare or novel variants |
| Methodology | Illumina NovaSeq NGS with transcriptome-level confirmation via RNA sequencing | Sanger sequencing or legacy NGS chemistry with limited sensitivity |
| Turnaround Time | 3–4 weeks (expedited available for prenatal cases) | 4–8 weeks |
| Genetic Counseling | Mandatory pre- and post-test counseling by Consultant Medical Geneticist | Optional or outsourced counseling |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that CHRNA1 gene analysis results must be interpreted within the complete clinical picture, family pedigree, and prenatal history. The identification of pathogenic variants guides recurrence risk estimation and informs reproductive options. Our role is to deliver precise genomic data while supporting families through every stage of the diagnostic journey. Always discuss results with your specialist to fully understand inheritance patterns and available interventions.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Critical Medical Advisory
Patient Safety & Exclusion Criteria
- Exclusion Criteria: Severe bleeding diathesis (INR > 1.5, platelets < 50×10⁹/L); inability to provide informed consent; known allergy to antiseptics used in blood collection.
- Sample Collection Risk: Standard venipuncture or finger-prick (FTA card) – minimal. If you experience uncontrolled bleeding, dizziness, or signs of infection (redness, swelling, pus) after sample collection, seek immediate medical attention.
- Emergency Red Flags: Neonatal or infant respiratory distress, severe joint contractures, or fetal akinesia. These are unrelated to the blood draw but may indicate urgent genetic or neonatal care.
⚠ Do not discontinue prescribed medication or make critical health decisions without consulting your doctor.
Patient FAQ & Clinical Guidance
1. What is the clinical purpose of the CHRNA1 NGS test?
The test identifies disease-causing variants in the CHRNA1 gene, confirming lethal multiple pterygium syndrome with 99.9% sensitivity. Results guide recurrence risk estimation, family planning decisions, and prenatal diagnosis in subsequent pregnancies.
2. What specimen types are accepted for this genetic analysis?
We accept peripheral whole blood collected in EDTA tubes, extracted genomic DNA of sufficient quality and quantity, or dried blood spots on FTA cards. All specimens are transported under temperature-controlled cold-chain conditions to preserve nucleic acid integrity.
3. Is genetic counseling mandatory before undergoing this test?
Yes. A pre-test genetic counseling session with a Consultant Medical Geneticist is mandatory to construct a three-generation pedigree, discuss hereditary risks, and obtain informed consent. Post-test counseling is also provided to explain results and reproductive options.
4. How are results reported and interpreted?
Results are reported as a comprehensive clinical genomics report detailing detected variants, their pathogenicity classification per ACMG guidelines, and clinical recommendations. Reports are reviewed and signed by the Consultant Medical Geneticist.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with UAE federal data protection and health information governance frameworks. All patient genomic data is processed and stored under:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and storage of personal and genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating health information systems and digital health data security.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — ensuring clinical safety standards and patient consent protocols are maintained throughout the testing lifecycle.
All genetic test results are encrypted, access-controlled, and retained only for the duration required by UAE health regulations. Patients retain full rights to access, rectify, or request deletion of their data in accordance with PDPL provisions.
Clinical & Logistical Metadata
| Test Name | CHRNA1 Gene Analysis for Lethal Multiple Pterygium Syndrome (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks (expedited available for prenatal cases) |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card) |
| Methodology Used | Illumina NovaSeq Next-Generation Sequencing (NGS) with Full Gene Coverage and CNV Detection |
| ICD-10-CM Code | Q79.8 |
| LOINC Code | 81265-5 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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