Test Price
2,800 AED✅ Home Collection Available
EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity via ISO 9001:2015 certified NGS platform targeting the full EXOSC3 coding region. This premium molecular assay provides a definitive diagnosis for pontocerebellar hypoplasia type 1B, enabling precise clinical management, family planning, and carrier screening. Includes hospital-grade cold-chain home collection across all emirates (8 AM–11 PM), VIP mobile phlebotomy, and post-test clinical guidance telephonically with a DHA-licensed Consultant Medical Geneticist.
Insurance & Direct Billing: WhatsApp verification at +971 54 548 8731 prior to service.
Test Overview & Methodology
The EXOSC3 NGS test sequences the entire coding region of the EXOSC3 gene to detect pathogenic variants responsible for pontocerebellar hypoplasia type 1B, a severe autosomal recessive neurodevelopmental disorder presenting with microcephaly, profound developmental delay, and progressive brainstem/cerebellar atrophy. This test confirms the clinical diagnosis and guides genetic counselling and family planning with high precision.
| Feature | Our EXOSC3 NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | Single gene deep coverage (100% exon coverage, >99.9% accuracy) | Broad genomic survey with variable depth; may miss deep intronic or regulatory variants specific to EXOSC3 |
| Methodology | NGS (Next Generation Sequencing) with Sanger confirmation of pathogenic findings | NGS Whole Exome Sequencing (WES) |
| Turnaround Time | 3 to 4 Weeks | 6 to 12 Weeks (often longer for informed consent and incidental finding management) |
| Cost Efficiency | AED 2,800 (targeted, no incidental findings) | AED 4,500 – 8,000 (plus counselling for secondary findings) |
| Clinical Actionability | Direct genotype–phenotype correlation for PCH1B; immediate guidance for family planning and surveillance | May generate variants of uncertain significance and incidental findings unrelated to pontocerebellar hypoplasia |
Physician Insight & Safety Protocols
“This test provides molecular confirmation of a devastating pediatric condition; however, a positive result must be integrated with neurological examination and neuroimaging findings to understand the full clinical picture. Families often experience profound distress, and our multidisciplinary team ensures empathetic communication and genetic counselling at every step. I strongly emphasize that clinical correlation is mandatory before any treatment decisions are made.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Important: Do not discontinue any prescribed medication (especially anticonvulsants, antispasticity agents, or respiratory support) without direct consultation with your treating neurologist.
Exclusion Criteria & ER Red Flags
- Patients with an active bleeding disorder or severe coagulopathy are not eligible for home phlebotomy without prior haematology clearance.
- If the child experiences new-onset prolonged seizures, apnoeic episodes, or acute respiratory failure, immediately seek emergency medical care and reschedule test collection.
- This test is not a substitute for urgent inpatient evaluation; always prioritize acute clinical stability.
Patient FAQ & Clinical Guidance
1. What symptoms indicate I should consider the EXOSC3 gene test for my child?
You should consider this test if your infant presents with progressive microcephaly, severe global developmental delay, and MRI evidence of pontocerebellar hypoplasia after excluding acquired causes. Additional clues include feeding difficulties, spasticity, central visual impairment, and a positive family history of similar neurodevelopmental regression. The test definitively confirms or excludes a genetic aetiology, guiding prognosis and family planning.
2. How is the sample collected and what preparation is required?
A DHA-licensed mobile phlebotomist collects a small blood sample (or FTA card finger prick) at your home, with no fasting required; a prior genetic counselling session is mandatory. We arrange a pedigree charting call before sample collection to document family history. For infants, a heel-stick FTA card collection is a gentle alternative. All samples are transported in ISO-certified cold-chain conditions to our NGS facility.
3. Could this test affect my child’s health insurance coverage in the UAE?
In the 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 prohibit genetic discrimination by insurers when medically indicated diagnostic tests are performed; your data is fully protected. All genetic reports are securely stored under UAE data privacy laws, and only shared with explicit consent. Our direct billing verification via WhatsApp ensures transparency with your insurer before testing begins. For minors, parental consent is required and data use is strictly limited to clinical purposes under these laws.
UAE Regulatory & Data Privacy Adherence
Data Protection: This test is performed in full compliance with Federal Decree-Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019, ensuring your personal genetic data is handled with the highest security and confidentiality. All genomic information is de-identified and stored on encrypted servers within the UAE.
Clinical Safety: Patient consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing informed choice and medical accountability.
Accreditation: ISO 9001:2015 Certified Facility – Certificate No: INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (Venipuncture or FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q04.8 (Other specified congenital malformations of brain) |
| LOINC Code | 82157-4 (EXOSC3 gene mutation analysis in Blood) |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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