Test Price
2,800 AED✅ Home Collection Available
CA8 Gene Test for Cerebellar Ataxia & Mental Retardation (CAMRQ3) – NGS Genetic DNA Analysis | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited processing.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM – 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance for result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CA8 gene NGS test analyzes the entire coding region of the CA8 gene using next‑generation sequencing to identify pathogenic variants associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 (CAMRQ3), a rare autosomal recessive disorder. This test is essential for diagnostic confirmation, carrier testing, and family risk assessment.
| Feature | Our CA8 NGS Test | Standard Single-Gene Sequencing |
|---|---|---|
| Precision | Targeted NGS with full gene coverage, detection of SNVs & small indels Analytical Sensitivity >99.9% |
Sanger sequencing, limited to known exons ~99% sensitivity |
| Methodology | Next‑Generation Sequencing (Illumina platform) with bioinformatic alignment to GRCh38 | Capillary electrophoresis (Sanger) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Sample Required | Whole blood (EDTA), extracted DNA, or dry blood spot (FTA card) | Whole blood only |
Physician Insight & Safety Protocols
“A positive CA8 mutation confirms the diagnosis of CAMRQ3, but clinical correlation with neurological examination, brain imaging, and family history remains paramount. I advise patients and families that genetic results may require multidisciplinary follow‑up with a neurologist and clinical geneticist. Do not interpret results in isolation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication and Treatment Considerations
Do not discontinue any prescribed medication or alter treatment plans without consulting your managing physician. Genetic testing does not provide immediate therapeutic recommendations; clinical decisions must be based on comprehensive evaluation.
Exclusion Criteria and Emergency Red Flags
- Exclusion Criteria: Acute illness with hemodynamic instability; inability to provide informed consent (minors require legal guardian consent); recent whole blood transfusion within 2 weeks (may interfere with germline DNA – use buccal swab or stored DNA if available).
- Emergency Red Flags: Sudden worsening of ataxia, respiratory distress, status epilepticus, or signs of increased intracranial pressure require immediate emergency care. Do not delay acute management for genetic test completion.
Patient FAQ & Clinical Guidance
1. What is the CA8 gene test and why is it performed?
Snippet: The CA8 gene test identifies mutations causing cerebellar ataxia, intellectual disability, and quadrupedal locomotion type 3 (CAMRQ3) using next‑generation sequencing.
This test examines the entire coding region of the CA8 gene to detect single nucleotide variants and small insertions/deletions that impair carbonic anhydrase‑related protein function, leading to the characteristic neurological phenotype. It is ordered for diagnostic confirmation in individuals with clinical signs of CAMRQ3, carrier testing in at‑risk relatives, and prenatal diagnosis when familial mutations are known.
2. How accurate is this genetic test?
Snippet: This test offers over 99% analytical sensitivity and specificity for CA8 gene variants when performed on high‑quality DNA.
Utilizing hybrid‑capture enrichment and sequencing on Illumina platforms with coverage >100x, the assay reliably detects pathogenic variants in >99.9% of the targeted bases. Variants of uncertain significance are reported with ClinVar annotations and in‑silico predictions. All results are interpreted according to ACMG/AMP 2025 guidelines.
3. Do I need a doctor’s referral to get this test in the UAE?
Snippet: Yes, a valid referral from a DHA‑licensed neurologist, clinical geneticist, or pediatric neurologist is mandatory per UAE regulations.
All advanced genetic tests in the UAE require a physician’s order to ensure appropriate pre‑test counseling and clinical indication. Our team can help coordinate with your referring physician and verify insurance pre‑authorization via WhatsApp at +971 54 548 8731. Direct‑to‑consumer ordering without a medical referral is not permitted under Federal Decree‑Law No. 4 of 2016 on Medical Liability and DHA Circular (Genetic Testing Services).
UAE Regulatory & Data Privacy Adherence
- All genetic data is processed in compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL); results are not shared with third parties without explicit consent.
- This service adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for health data protection.
- Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA facility license #1143.
Clinical & Logistical Metadata
| Test Name | CA8 Gene Test for Cerebellar Ataxia & Mental Retardation (CAMRQ3) – NGS Genetic DNA Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or dry blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (Illumina platform) with bioinformatic alignment to GRCh38 |
| ICD-10-CM Code | G11.8, F79, Z15.89 |
| LOINC Code | 83006-7 |
| DHA Facility License & Laboratory Address | DHA License #1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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