Cerebral Cavernous Malformations via the CCM2 Gene, Exons 2-10 Deletion
Summary and Pricing 
Test Method
Targeted Deletion Testing via PCR
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 124 | CCM2 | 81479 | 81479 | $350 | Order Options and Pricing |
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Turnaround Time
4 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Clinical Features and Genetics
Clinical Features
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the brain that can cause significant neurological disabilities, including intractable seizures and hemorrhagic stroke. CCMs represent 5-15% of all cerebral vascular malformations and occur in ~0.5% of the general population. CCMs have been reported in infants and children, but the majority of patients present with symptoms between the second and fifth decades. CCMs occur in a sporadic form in which patients usually present with a single lesion and no family history or a familial form characterized by multiple lesions and usually a strong family history. A significant fraction of “sporadic” cases with multiple lesions are members of an undiagnosed affected family. Not all patients with CCMs are clinically symptomatic. Symptomatic lesions may often be removed surgically. For additional information, see Zabramski et al. J Neurosurg 80: 422-432, 1994, Morrison and Akers 2011 GeneReviews (http://www.geneclinics.org/), and Angioma Alliance (http://www.angiomaalliance.org/).
Genetics
Familial cerebral cavernous malformations (CCMs) show autosomal dominant inheritance. Three causative genes for CCMs have been identified: KRIT1 (also called CCM1), encoding a protein that interacts with the Krev-1/rap1a tumor suppressor; CCM2, which is similar to the KRIT1 binding partner ICAP1α; and PDCD10 (or CCM3), the programmed cell death 10 gene. Almost all causative variants (in all three genes) are either nonsense, frameshift, splicing, or deletion; missense variants are rare or absent (Denier et al. Ann Neurol 60:550-556, 2006; Plummer et al. Curr Neurol Neurosci Rep 5:391-396, 2005). Liquori et al. (Am J Hum Genet 80:69-75, 2007) reported that deletions in CCM2, especially a 78 kb deletion of exons 2-10, were a frequent cause of CCMs.
Clinical Sensitivity - Targeted Deletion
| Test | Variants Detected |
| CCM2 deletion testing | CCM2 del exon 2-10 |
Testing Strategy
This test involves amplification of patient DNA with a specific pair of PCR primers that flank the common CCM2 exon 2-10 deletion. From chromosomes carrying the deletion, an 839 bp PCR product is produced. In normal chromosomes, the PCR primers are ~78 kb apart, and no PCR product is generated.
Indications for Test
Patients with multiple CCMs or a single CCM and a family history of CCMs. Patients with single lesions and no family history are not likely to give a positive test result.
Patients with multiple CCMs or a single CCM and a family history of CCMs. Patients with single lesions and no family history are not likely to give a positive test result.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| CCM2 | 607929 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Cerebral Cavernous Malformations 2 | AD | 603284 |
Related Tests
| Name |
|---|
| Cerebral Cavernous Malformations Panel |
| Cerebral Cavernous Malformations via the CCM2 Gene |
Citations
- Akers AL, Johnson E, Steinberg GK, Zabramski JM, Marchuk DA. 2009. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. Hum. Mol. Genet. 18: 919–930. PubMed ID: 19088123
- Denier C, Labauge P, Bergametti F, Marchelli F, Riant F, Arnoult M, Maciazek J, Vicaut E, Brunereau L, Tournier-Lasserve E, Société Française de Neurochirurgie. 2006. Genotype-phenotype correlations in cerebral cavernous malformations patients. Ann. Neurol. 60: 550–556. PubMed ID: 17041941
- Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. 2007. Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations. The American Journal of Human Genetics 80: 69–75. PubMed ID: 17160895
- Plummer NW, Zawistowski JS, Marchuk DA. 2005. Genetics of cerebral cavernous malformations. Current neurology and neuroscience reports 5: 391–396. PubMed ID: 16131422
- Zabramski JM, Wascher TM, Spetzler RF, Johnson B, Golfinos J, Drayer BP, Brown B, Rigamonti D, Brown G. 1994. The natural history of familial cavernous malformations: results of an ongoing study. Journal of neurosurgery 80: 422–432. PubMed ID: 8113854
Ordering/Specimens
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Requisition Form
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Specimen Types
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