Test Price
2,800 AED✅ Home Collection Available
CASK Gene Genetic Test for Mental Retardation & Microcephaly with Pontocerebellar Hypoplasia in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM with ISO-certified transport.
- Clinical Guidance: Complimentary telephonic post-test clinical interpretation by DHA-licensed Consultant Medical Geneticist.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
- Regulatory Compliance: DHA Facility License No. 1143 issued under Dubai Healthcare City Authority.
Test Overview & Methodology
The CASK Gene Genetic Test identifies pathogenic variants in the CASK gene associated with mental retardation, microcephaly, and pontocerebellar hypoplasia (MICPCH). This advanced next-generation sequencing assay provides definitive molecular diagnosis for affected individuals and at-risk family members, enabling personalized neurological management and informed family planning.
The analysis covers all coding exons, exon-intron boundaries, and the 5' and 3' untranslated regions using high-depth NGS. Bioinformatic pipelines detect single nucleotide variants, small insertions and deletions, and copy-number variants across the entire CASK gene locus with greater than 99.9% analytical sensitivity and specificity.
| Feature | Our CASK NGS Test | Closest Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) with full gene coverage + CNV analysis | Targeted PCR for a few known mutations (limited scope) |
| Diagnostic Yield | Detects point mutations, indels, and copy-number variants across all coding exons | Misses novel or rare variants; low resolution |
| Turnaround Time | 3 – 4 weeks from sample receipt | 2 – 3 weeks (incomplete analysis) |
| Regulatory Compliance | DHA Facility License No. 1143, ISO 9001:2015, UAE PDPL compliant | Often lacks UAE-specific accreditation |
Physician Insight & Safety Protocols
“A definitive molecular diagnosis through CASK gene sequencing provides essential prognostic clarity for families navigating complex neurodevelopmental disorders. However, results must always be correlated with detailed clinical phenotyping, neuroimaging, and electroencephalographic findings. A negative sequencing result does not rule out alternative genetic or acquired etiologies, and all patients should continue established therapeutic and supportive interventions unless explicitly adjusted by the managing physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Important Advisory for Patients and Families
CLINICAL NOTICE: Do not discontinue, adjust, or withhold any prescribed medications, therapies, or interventions without direct consultation with the managing physician. Genetic testing results inform clinical decision-making but do not replace comprehensive ongoing medical management and multidisciplinary care.
Pre-Test Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide informed consent from the patient or legally authorized representative. For home phlebotomy, a responsible adult must remain present throughout the collection procedure.
- Exclusion: Haemodynamic instability requiring continuous inpatient monitoring — hospital-based collection is mandatory in such cases.
- Exclusion: Known coagulopathy or severe thrombocytopenia — venous access must be arranged under direct physician supervision.
- ER Red Flag: New-onset seizures, loss of consciousness, or acute respiratory distress warrant immediate emergency medical attention. Do not delay emergency care for specimen collection.
- ER Red Flag: Signs of raised intracranial pressure such as severe headache, recurrent vomiting, or visual disturbances require urgent neuroimaging assessment and are not appropriate for outpatient genetic draw.
Patient FAQ & Clinical Guidance
1. What does the CASK gene genetic test detect?
This test accurately detects disease-causing sequence variants and copy-number changes in the CASK gene, which are linked to X-linked intellectual disability, microcephaly, and pontocerebellar hypoplasia (MICPCH). The analysis identifies single nucleotide variants, small insertions and deletions, and larger structural rearrangements across all coding exons and flanking intronic regions.
A definitive molecular diagnosis enables targeted genetic counseling, prognosis refinement, and family planning options for at-risk relatives.
2. How is the sample collected for the CASK gene test?
A certified phlebotomist collects a peripheral whole blood sample using standard venipuncture technique. The blood is drawn into an EDTA tube to preserve DNA integrity. Alternatively, a dried blood spot on an FTA card can be collected from a finger-prick for pediatric or difficult-access patients.
Our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM, following strict cold-chain protocols to maintain sample stability. All collections are performed by DHA-licensed professionals.
3. What is the turnaround time for CASK gene sequencing results?
Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. This timeline includes DNA extraction, library preparation, high-depth next-generation sequencing, bioinformatic analysis, and clinical variant interpretation by a Consultant Medical Geneticist.
If urgent actionable findings are identified during the analysis, an interim clinical report is issued to the referring physician without awaiting complete turnaround.
4. Who should consider the CASK gene genetic test?
This test is indicated for individuals with unexplained intellectual disability, developmental delay, microcephaly, cerebellar hypoplasia, or pontocerebellar hypoplasia. It is also offered for at-risk family members of a proband with a known CASK pathogenic variant to determine carrier status and guide reproductive decisions.
Pre-test genetic counseling is strongly recommended to discuss the scope, limitations, and potential implications of the results.
UAE Regulatory & Data Privacy Adherence
All genetic testing services provided by DNA Labs UAE operate 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. Patient genomic data is encrypted, access-controlled, and processed solely for diagnostic purposes with explicit written consent. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our DHA-licensed facility (License No. 1143) is subject to regular audit by the Dubai Healthcare City Authority and Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | CASK Gene Genetic Test for Mental Retardation & Microcephaly with Pontocerebellar Hypoplasia |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or dried blood spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) with full-coding exon coverage and CNV analysis |
| ICD-10-CM Code | Q04.8, Q02, F70 |
| LOINC Code | 81261-4 |
| DHA Facility License & Laboratory Address | DNA Labs UAE — DHA License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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