Test Price
2,800 AED✅ Home Collection Available
WASHC5 Gene Ritscher‑Schinzel Syndrome Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Diagnostic Accuracy: 99.9% analytical sensitivity via ISO‑certified Next‑Generation Sequencing (NGS) processing.
Logistics Excellence: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM, performed by DHA‑licensed nursing staff.
Clinical Guidance: Post‑test teleconsultation with a DHA‑registered Consultant Medical Geneticist to interpret results and guide family counselling.
Insurance Verification: Real‑time coverage check via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The WASHC5 gene NGS test definitively confirms Ritscher‑Schinzel syndrome type 1 (cranio‑cerebello‑cardiac syndrome) in children presenting with dysmorphic craniofacial features, cerebellar hypoplasia, and congenital heart defects. This targeted single‑gene analysis delivers high‑depth coverage of the WASHC5 coding region, enabling precise identification of pathogenic variants that underpin this autosomal recessive disorder.
| Feature | Our Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | High‑depth targeted WASHC5 gene analysis with 99.9% sensitivity | Broad but variable coverage of WASHC5 region; higher risk of incomplete capture |
| Methodology | Next Generation Sequencing (NGS) – focused single‑gene assay | Whole Exome Sequencing (WES) with incidental findings burden |
| Turnaround Time | 3–4 Weeks | 6–12 Weeks |
| Clinical Utility | Definitive molecular confirmation of Ritscher‑Schinzel syndrome type 1 | May detect incidental variants requiring additional interpretation |
Physician Insight & Safety Protocols
“A pathogenic variant in WASHC5 provides definitive molecular confirmation of Ritscher‑Schinzel syndrome type 1, yet the result must always be integrated with the full clinical phenotype—craniofacial dysmorphism, cerebellar malformation, and cardiac structural defects. A negative result does not rule out other genetic syndromes; a broader genomic workup may be warranted. I strongly recommend discussing all findings with a board‑certified clinical geneticist to guide family counselling, recurrence risk assessment, and long‑term management planning.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication without consulting your treating physician. This test provides genetic information only and does not replace ongoing medical care or emergency intervention.
Safety & Exclusion Criteria
- This test is not intended for stand‑alone carrier screening or prenatal diagnosis without comprehensive genetic counselling and parallel testing pathways.
- Patients experiencing acute clinical decompensation—severe respiratory distress, refractory seizures, or haemodynamic instability—require immediate emergency medical care; do not defer treatment for test results.
- All results must be interpreted by a DHA‑licensed specialist in medical genetics; self‑interpretation can lead to serious clinical misjudgement.
Patient FAQ & Clinical Guidance
1. What does the WASHC5 gene test detect?
This NGS assay identifies pathogenic mutations in the WASHC5 gene, providing molecular confirmation of Ritscher‑Schinzel syndrome type 1 in patients presenting with characteristic craniofacial dysmorphism, cerebellar hypoplasia, and congenital cardiac anomalies. The test differentiates this specific syndrome from other overlapping neurodevelopmental disorders.
2. Who should consider this genetic test?
Infants and children with clinical features suggestive of Ritscher‑Schinzel syndrome—including dysmorphic facial appearance, posterior fossa malformation with cerebellar hypoplasia, and structural heart defects—after evaluation by a paediatrician or clinical geneticist. Family members of an index case may also be offered targeted testing for recurrence risk assessment.
3. How is the sample collected and what is the process?
A DHA‑licensed phlebotomist collects a peripheral whole blood sample during a scheduled VIP home visit (daily 8 AM–11 PM). The specimen is transported under ISO‑certified temperature‑controlled cold‑chain conditions to our CAP‑accredited laboratory. DNA extraction, library preparation, NGS sequencing, and bioinformatic analysis proceed over 3–4 weeks, followed by a detailed clinical report.
4. Can the test be performed on an archived tissue sample?
No. This assay requires a viable peripheral blood sample for high‑quality DNA extraction. Archival specimens such as FFPE tissue blocks or biopsy slides are not suitable for this single‑gene NGS workflow.
5. Is the test covered by health insurance in the UAE?
Coverage varies by insurer and policy. Our team performs real‑time insurance verification via WhatsApp +971 54 548 8731 prior to sample collection. Patients are advised to confirm genetic testing benefits with their provider in advance.
UAE Regulatory & Data Privacy Adherence
Data Protection Framework: Your genetic data is 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. All clinical testing, patient consent, and safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
DHA Oversight: This test is performed under DHA Facility License Number 1143. Results are issued only to the ordering physician and the patient or legal guardian. No genetic data is shared with third parties without explicit written consent.
Clinical & Logistical Metadata
| Test Name | WASHC5 Gene Ritscher‑Schinzel Syndrome Type 1 Genetic Test (NGS Single‑Gene Analysis) |
| 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) – targeted single‑gene assay with high‑depth coverage of coding exons and flanking intronic regions |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 94473-0 |
| DHA Facility License & Laboratory Address | DHA 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