Test Price
2,800 AEDโ Home Collection Available
CHRND Gene Lethal Multiple Pterygium Syndrome Genetic Test (NGS)
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity through ISO 9001:2015 accredited next-generation sequencing.
- Premium Logistics: VIP mobile phlebotomy with temperature-controlled cold-chain home collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test interpretation by a DHA-licensed geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the full coding and flanking regions of the CHRND gene to detect pathogenic variants associated with lethal multiple pterygium syndrome (LMPS). LMPS is a severe autosomal recessive disorder characterized by skin webbing, joint contractures, and often neonatal lethality. The test aids in definitive molecular diagnosis, carrier screening, and prenatal decision-making.
Comparison: NGS vs. Traditional Sanger Sequencing
| Feature | Our Test (NGS) | Sanger Sequencing |
|---|---|---|
| Methodology | NGS (Full gene coverage) | Single exon analysis |
| Sensitivity | >99.9% | ~95% |
| Turnaround Time | 3โ4 weeks | 5โ7 weeks |
| Price (AED) | 2,800 | Not offered |
Physician Insight & Safety Protocols
"As a clinical geneticist, I recognize the profound emotional and clinical weight attached to testing for lethal multiple pterygium syndrome. This NGS panel delivers high sensitivity for CHRND mutations, enabling families to make informed reproductive and neonatal care decisions. However, no genetic finding should stand alone; correlation with detailed ultrasound and clinical phenotype is essential."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Do Not Discontinue Prescribed Medications
This genetic test is for diagnostic purposes only. Do not stop any prenatal supplements or prescribed medications without direct consultation with your treating physician.
Exclusion Criteria & Red Flags
- A pre-test genetic counseling session with documented informed consent is mandatory; samples without proof of counseling will be rejected.
- For prenatal cases, confirm gestational age and viability via ultrasound before sample collection. Contact the laboratory immediately if amniocentesis or chorionic villus sampling is involved.
- Emergency: If a positive result indicates a lethal fetal condition, seek immediate counseling from a maternal-fetal medicine specialist. Do not make clinical decisions based solely on this test.
Patient FAQ & Clinical Guidance
1. What is the CHRND gene lethal multiple pterygium syndrome genetic test?
This next-generation sequencing test analyzes the entire CHRND gene to detect mutations responsible for lethal multiple pterygium syndrome, a severe congenital disorder. It provides definitive molecular diagnosis and identifies carrier status.
2. Why is pre-test genetic counseling mandatory?
Genetic counseling ensures you fully understand the testโs purpose, possible outcomes (including a lethal diagnosis), and implications for family members. This is a legal requirement under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability and aligns with international standards for informed consent.
3. How long do results take, and what do they mean?
Results are available within 3โ4 weeks. A negative report indicates no disease-causing mutation was identified, reducing but not eliminating risk. A positive result confirms the diagnosis of lethal multiple pterygium syndrome, guiding clinical management and family planning.
UAE Regulatory & Data Privacy Adherence
Your Privacy and Legal Protection
This laboratory service operates 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 genetic data is handled under strict confidentiality protocols. The laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CHRND Gene Lethal Multiple Pterygium Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Peripheral Blood (Whole Blood) โ VIP mobile phlebotomy available |
| Methodology Used | Next-Generation Sequencing (Full Gene Coverage) |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 55225-7 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
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HIPAA
All reports reviewed by DHA-Certified physicians