Test Price
2,800 AED✅ Home Collection Available
CCM2 Gene Sequencing for Cerebral Cavernous Malformations Type 2 (Genetic Test) in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This ISO 9001:2015-certified Next-Generation Sequencing test delivers 99.9% diagnostic sensitivity for pathogenic variants in the CCM2 gene, the inherited cause of familial cerebral cavernous malformations type 2. The analysis covers the entire coding region and splice sites using an Illumina® platform, enabling detection of single nucleotide variants, small insertions/deletions, and copy-number alterations with high confidence.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS 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 across all Emirates.
- Clinical Guidance: Complimentary telephonic post-test genetic counselling session with variant interpretation and familial risk assessment.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted NGS assay sequences the entire coding region and flanking intronic boundaries of the CCM2 gene (NM_031443.4) on chromosome 7p13. Pathogenic variants in CCM2 disrupt the CCM protein complex leading to aberrant angiogenesis and formation of leaky capillary-venous malformations in the brain. The test is indicated for individuals with multiple cavernous malformations on MRI, a family history of CCM, or first-degree relatives of a proband with a confirmed CCM2 mutation.
| Feature | Our CCM2 NGS Test | Closest Alternative (Targeted Sanger / Multi-Gene Panel) |
|---|---|---|
| Methodology | Full-gene NGS on Illumina® platform with >100× coverage | Hotspot Sanger sequencing or limited panel; may miss deep intronic variants |
| Variant Detection Scope | SNVs, indels, CNVs; >99.9% sensitivity and >99.9% PPV | Limited to known hotspots; large rearrangements and CNVs often undetected |
| Turnaround Time | 3–4 weeks | 4–7 weeks (sequential single-gene reactions) |
| ISO Accreditation | ISO 9001:2015 certified (INT/EGQ/2509DA/3139) | Variable; external certification often absent |
| Price in UAE | 2,800 AED | 3,500 – 4,500 AED |
Physician Insight & Safety Protocols
"Targeted NGS of the CCM2 gene provides a definitive molecular diagnosis in familial cerebral cavernous malformations and enables cascade screening of at-risk relatives. However, a positive genetic finding must always be interpreted alongside high-resolution susceptibility-weighted MRI and a thorough neurological examination. Genetic counselling before and after testing is essential to discuss variant classification, incomplete penetrance, and the implications for family planning."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Safety Protocols
- Pre-test counselling: A genetic counselling session is recommended before blood draw to discuss the implications of a positive, negative, or variant of uncertain significance (VUS) result.
- Medication stability: Do not alter or discontinue any prescribed therapy—especially anticoagulants, antiplatelets, or anti-epileptic drugs—without explicit direction from your treating physician.
- Emergency symptoms: After specimen collection, if you experience sudden severe headache, seizure, focal weakness, vision changes, or speech difficulty, proceed to the nearest emergency department immediately.
Clinical Exclusion Criteria
- Recent blood transfusion: Testing should be deferred for at least 2 weeks following a transfusion to avoid false-negative results due to donor DNA interference.
- Active systemic infection or acute illness: Collection should be postponed until full clinical recovery to avoid sample quality degradation and potential haemolysis.
- Pregnancy: Prenatal genetic testing requires additional pre-test counselling and written informed consent; consultation with a maternal-fetal medicine specialist is advised.
- Inability to provide informed consent: Patients unable to understand the scope and implications of testing must have a legal guardian present during the counselling process.
Patient FAQ & Clinical Guidance
1. Who should consider CCM2 genetic testing?
Testing is recommended for individuals with multiple cerebral cavernous malformations detected on susceptibility-weighted MRI, a confirmed family history of CCM2-related disease, or first-degree relatives of a proband with a known pathogenic CCM2 variant. Pre-symptomatic testing in minors should follow established paediatric genetic testing guidelines with appropriate counselling.
2. What sample type is required and how is it collected?
A peripheral blood sample (3–5 mL in an EDTA lavender-top tube) is the standard specimen. A dried blood spot on an FTA card or extracted genomic DNA (≥1 µg at ≥50 ng/µL) is also accepted. Our VIP Mobile Phlebotomy team provides temperature-controlled home collection daily from 8 AM to 11 PM with a 60-minute arrival window across all Emirates.
3. How are results delivered and what post-test support is provided?
A secure, digitally signed PDF report is delivered within 3–4 weeks. Each report includes variant classification per ACMG/AMP guidelines, coverage metrics, and a clinical interpretation summary. A complimentary tele-genetic counselling session with a board-certified medical geneticist is provided to explain the results, discuss cascade testing options, and address family planning questions.
4. Can I undergo testing if I am currently taking anticoagulant medication?
Yes, the blood draw for genetic testing is safe while on anticoagulants. However, you must not stop or change your anticoagulant regimen based on your genetic test result without a direct consultation with your prescribing physician. The genetic test result itself provides susceptibility information and does not dictate acute medication changes.
5. What does a variant of uncertain significance (VUS) mean for my care?
A VUS indicates that the detected DNA change has unclear clinical significance based on current evidence. It does not confirm or exclude a diagnosis of CCM2. Your medical geneticist may recommend segregation studies in family members, additional functional assays, or reclassification over time as new data emerges. Periodic re-evaluation of VUS results is advised.
UAE Regulatory & Data Privacy Adherence
All clinical and genetic data generated by this test are 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. Patient consent for genetic testing is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Genomic data are stored on encrypted, access-restricted servers within the UAE and are never shared with third parties without explicit written authorization. DNA Labs UAE is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and holds DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | CCM2 Gene Sequencing for Cerebral Cavernous Malformations Type 2 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral blood (3–5 mL in EDTA tube), dried blood spot on FTA card, or extracted genomic DNA (≥1 µg at ≥50 ng/µL) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® platform; full coding region and splice sites; >100× mean coverage |
| ICD-10-CM Code | Q28.3, Z82.3, Z15.89 |
| LOINC Code | 92966-6 |
| DHA Facility License & Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DHA License No: 1143 |
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