Test Price
2,800 AED✅ Home Collection Available
CHMP1A Gene Pontocerebellar Hypoplasia Type 8 (PCH8) Genetic Test in UAE
Executive Summary & Core Metrics
This Next-Generation Sequencing (NGS) genetic test provides definitive molecular diagnosis of Pontocerebellar Hypoplasia Type 8 (PCH8) caused by pathogenic variants in the CHMP1A gene. The test delivers 99.9% diagnostic sensitivity for single nucleotide variants, insertions, deletions, and copy number variations, processed under ISO 9001:2015 accreditation (Cert: INT/EGQ/2509DA/3139).
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing & NGS Technology.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- ✓ Clinical Guidance: Telephonic Post-Test Genetic Counselling and Result Interpretation by a Consultant Medical Geneticist.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971545488731 (within one working day).
Test Overview & Methodology
This test employs Massively Parallel Sequencing (NGS) to comprehensively analyze the CHMP1A coding regions and splice sites. Bioinformatics interpretation follows ACMG 2024 guidelines with AI-driven variant classification. The gold‑standard methodology outperforms traditional Sanger sequencing in detection breadth and speed.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Full NGS (Massively Parallel Sequencing) | Single Gene Sanger |
| Detection Rate | 99.9% sensitivity for SNVs, indels, CNVs | ~98% for known point mutations |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Bioinformatics | AI-driven variant calling per ACMG 2024 | Manual curation |
The test is processed under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and adheres to DHA/MOHAP standards.
Physician Insight & Safety Protocols
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication & Safety Advisory
⚠ Important Precautions
Do not discontinue prescribed medication without consulting your doctor. Anticonvulsants or muscle relaxants should be continued as advised. Any change may provoke uncontrolled seizures or spasticity worsening.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Test not performed on minors without legal guardian’s written informed consent, nor on patients with active severe coagulopathy (INR >1.8) who cannot provide a safe blood sample.
- Emergency Red Flags: If the patient experiences acute respiratory distress, status epilepticus, or loss of consciousness, proceed immediately to the nearest Emergency Department. This test does not replace urgent neurological assessment.
Patient FAQ & Clinical Guidance
1. How accurate is the CHMP1A NGS test for diagnosing Pontocerebellar Hypoplasia Type 8?
The test achieves 99.9% diagnostic sensitivity for detecting pathogenic variants in the CHMP1A gene, providing a definitive genetic diagnosis of PCH8 when interpreted in the context of clinical and imaging findings.
2. What sample is required and is home collection available in Dubai and Abu Dhabi?
We require 2–3 mL of whole blood, extracted DNA, or a dried blood spot on FTA card. Our ISO‑certified phlebotomy team provides VIP home collection across all UAE emirates from 8 AM to 11 PM via temperature‑controlled cold chain.
3. Will my insurance cover this genetic test and how can I verify?
Direct insurance billing verification is available within one working day by sending your Emirates ID and policy details via WhatsApp to +971545488731. Most major UAE insurers cover medically indicated genetic testing.
UAE Regulatory & Data Privacy Adherence
This laboratory service operates in full compliance with UAE 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, access‑controlled, and processed exclusively within secure UAE‑based servers. Clinical testing safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds DHA Facility License No. 1143 and is located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | CHMP1A Gene Pontocerebellar Hypoplasia Type 8 (PCH8) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (2-3 mL), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Massively Parallel Sequencing |
| ICD-10-CM Code | Q04.3 (Pontocerebellar hypoplasia), Z13.42 (Screening for genetic anomalies), Z82.79 (Family history of congenital malformations) |
| LOINC Code | 98052-2 |
| DHA Facility License & Laboratory Address | License: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians