Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

CCM Del/Dup Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CCM2, KRIT1, PDCD10
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:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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)
  • 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)
* For price inquiries please email zebras@genedx.com

REFERENCES

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

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