Test Price
2,800 AED✅ Home Collection Available
HYLS1 Gene Hydrolethalus Syndrome Genetic Test (NGS) – 2,800 AED – DHA Licensed Laboratory, Dubai
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
DHA Facility License 1143 | Dubai Healthcare City
Test Overview & Methodology
The HYLS1 NGS test screens for pathogenic variants in the HYLS1 gene, causing hydrolethalus syndrome—a severe autosomal recessive fetal malformation syndrome. This test utilizes next‑generation sequencing (Illumina® platform) with Sanger confirmation to deliver definitive molecular diagnosis, guiding family planning and perinatal management.
| Parameter | Our HYLS1 NGS Test | Closest Alternative (Research Exome) |
|---|---|---|
| Precision | Targeted 100% coverage of HYLS1 coding regions; variant‑specific interpretation | Exome‑wide with incidental findings; lower depth for specific gene |
| Methodology | Next Generation Sequencing (Illumina®) + Sanger confirmation | Whole Exome Sequencing (WES), bioinformatics filtering |
| Turnaround Time | 3 to 4 Weeks | 8–12 Weeks (standard) |
| Price | 2,800 AED | 4,500–6,000 AED (variable) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"As a consultant medical geneticist, I emphasize that this test confirms a suspected hydrolethalus syndrome diagnosis after prenatal ultrasound findings such as hydrocephalus and polydactyly. However, a negative result does not entirely exclude the disorder; clinical correlation and family follow‑up remain essential. Patients and families should never discontinue prescribed prenatal care based solely on genetic results."
Medication & Safety Advisory
Do not discontinue prescribed medication without consulting your doctor. This genetic test requires a blood draw; inform the phlebotomist of any bleeding disorders or anticoagulant therapy.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Known severe coagulopathy, active febrile infection, inability to provide informed consent (or parent/guardian consent for minors).
- ER Red Flags after blood collection: Persistent bleeding >10 minutes, expanding hematoma, signs of infection at puncture site (redness, purulent discharge, fever). Seek urgent care immediately.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the HYLS1 NGS test for hydrolethalus syndrome?
First Answer Sentence for Snippet: The HYLS1 NGS test definitively identifies biallelic pathogenic variants in the HYLS1 gene, confirming hydrolethalus syndrome diagnosis with near‑100% sensitivity in affected fetuses or infants and enabling accurate carrier screening for at‑risk families.
This test is vital when prenatal ultrasound reveals midline defects, hydrocephalus, and polydactyly, offering families a clear molecular answer instead of clinical uncertainty. Genetic counseling before testing ensures informed decision‑making and appropriate family planning.
2. What sample types are accepted, and how should the collection be handled?
First Answer Sentence for Snippet: We accept whole blood (EDTA tube), extracted DNA, or one drop of blood on an FTA card, all requiring proper cold‑chain transport and a completed clinical history form with a detailed pedigree chart.
Samples are collected via VIP Mobile Phlebotomy (8 AM–11 PM) or at our facility. For neonatal testing, a heel‑prick FTA card is recommended. Pre‑test genetic counseling must document affected family members to ensure accurate variant interpretation.
3. Are the results recognized by UAE health authorities for medical decision‑making?
First Answer Sentence for Snippet: Yes, our laboratory holds DHA facility license 1143 and ISO 9001:2015 certification, with results reported in structured NGS format per ACMG guidelines—accepted by all DHA/MOHAP hospitals. Secure digital delivery and telephonic interpretation are available in English.
All data handling complies with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning health data privacy. Clinical validity is ensured under Federal Decree‑Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
Compliance Framework:
- Data Privacy: Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Health Data Use: Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Medical Liability & Consent: Federal Decree‑Law No. 4 of 2016 on Medical Liability
- Accreditation: DHA Facility License 1143 | ISO 9001:2015 Certified
All genetic results are delivered via encrypted digital channels; patient consent is documented and revocable at any time.
Clinical & Logistical Metadata
| Test Name | HYLS1 Gene Hydrolethalus Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (Illumina®) + Sanger confirmation |
| ICD‑10‑CM Code | Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 94039‑6 (Genetics test report) |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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