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Cerebral Cavernous Malformation (CCM)

Cerebral cavernous malformations (CCM) are predominantly central nervous system (CNS) vascular lesions formed by a cluster of grossly dilated blood vessels. Each vessel is comprised of a single layer of epithelium without normal intervening brain parenchyma or vascular support cells. Symptoms typically present in the 2nd-5th decades and can include seizures, focal neurological deficits, chronic [...]

+ Mutation-specific testing   + Prenatal testing

Cerebral cavernous malformations (CCM) are predominantly central nervous system (CNS) vascular lesions formed by a cluster of grossly dilated blood vessels. Each vessel is comprised of a single layer of epithelium without normal intervening brain parenchyma or vascular support cells. Symptoms typically present in the 2nd-5th decades and can include seizures, focal neurological deficits, chronic headaches, epilepsy, stroke, and cerebral hemorrhage. Interfamilial and intrafamilial variability of symptoms has been noted. Individuals may be clinically asymptomatic; MRI may be necessary to diagnose asymptomatic lesions in at-risk individuals. Although the vascular anomalies primarily affect the CNS, lesions also have been reported in the retina (Labauge et al, 2006; Davenport et al, 2001) and skin, as hyperkeratotic cutaneous capillary-venous malformations (Chen et al, 2002; Eerola et al, 2000). CCM occurs in 0.1-0.5% of the general population and can occur isolated or as a familial form. Familial CCM is defined as the presence of CCM in at least two family members, and/or the presence of an identified disease causing mutation in one of the three genes known to be associated with CCM (KRIT1, CCM2, PDCD10), and/or the presence of multiple CCMs in an individual. The prevalence of the familial form is estimated to be as high as 50% within the Southwest American Hispanic population (due to a founder mutation in the KRIT1 gene) and as high as 10-40% within the Caucasian population (Riant et al, 2010). Penetrance is incomplete, which may account for unrecognized familial forms initially thought to be sporadic

+ Mutation-specific testing   + Prenatal testing

Tests Available

CCM Tier 1

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
KRIT1
Clinical Utility:
  • • Confirmation of a clinical diagnosis
  • • Identification of family members at-risk for cerebral cavernous malformations (CCMs)
  • • Recurrence risk assessment
  • • Prenatal diagnosis in families with a known mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
4181
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
List Price:
$500.00
Billing Information:
View Billing Policy
ICD Codes:
  • 747.81: Anomalies of cerebrovascular system, Arteriovenous malformation of brain, Cerebral arteriovenous aneurysm, congenital Congenital anomalies of cerebral vessels
  • 228: Hemangioma and lymphangioma,
  • 325: Phlebitis and thrombophlebitis of intracranial venous sinuses, Embolism of cavernous, lateral, or other intracranial or unspecified intracranial venous sinu,s Endophlebitis of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Phlebitis, septic or suppurative of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Thrombophlebitis of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Thrombosis of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Excludes: that specified as: complicating pregnancy, childbirth, or the puerperium (671.5) of nonpyogenic origin (437.6)
  • 747.6: Other anomalies of peripheral vascular system, Absence of artery or vein, NEC Anomaly of artery or vein, NEC Atresia of artery or vein, NEC Arteriovenous aneurysm (peripheral), Arteriovenous malformation of the peripheral vascular system Congenital: aneurysm (peripheral) phlebectasia stricture, artery varix Multiple renal arteries Excludes: anomalies of: cerebral vessels (747.81) pulmonary artery (747.3) congenital retinal aneurysm (743.58) hemangioma (228.00-228.09) lymphangioma (228.1)

REFERENCES

  1. Riant et al. (2010) FEBS J 277:1070-1075
  2. Denier et al. (2006) Ann Neurol 60:550-556
  3. Stahl et al. (2008) Hum Mutat 29(5):709-717
  4. Liquori et al. (2007) Am J Hum Genet 80:69-75
  5. Faurobert and Albiges-Rizo. (2010) FEBS J 277:1084-1096
  6. Labauge et al. (2006) Arch Ophthalmol 124:885-886
  7. Eerola et al. (2000) Hum Mol Genet 9(9):1351-1355
  8. Davenport et al. (2001) Neurology 56:540-543
  9. Chen et al. (2002) J Neurol Sci 196:91-96
  10. Cavé-Riant et al. (2002) Eur J Hum Genet 10:733-740

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