Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

CCM Tier 1

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
KRIT1
Disorders:
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
New York Approved:
No
ABN Required:
Yes
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)
* For price inquiries please email zebras@genedx.com

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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