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Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication
2003172
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Mnemonic
CCM DELDUP
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 21 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for CerebralCavernous Malformation(CCM1, CCM2, and CCM3) Deletion/Duplication:
Characteristics of Cerebral Cavernous Malformation (CCM):
Seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage.
Incidence of Familial CCM:
1:2,000 to 1:10,000.
Inheritance:
Autosomal dominant.
Cause:
Pathogenic mutations in the KRIT1 (CCM1), CCM2, PDCD10 (CCM3), and unknown gene(s).
Genes Tested:
KRIT1 (CCM1), CCM2, PDCD10 (CCM3).
Clinical Sensitivity:
20-25 percentforKRIT1 (CCM1),CCM2, and PDCD10 (CCM3)combined.
Methodology:
Multiplex ligation-dependent probe amplification (MLPA) of the entire KRIT1 (CCM1),CCM2, andPDCD10 (CCM3) coding regions.
Analytical Sensitivity and Specificity of MLPA:
90 and 99 percent, respectively.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Single base pair substitutions, small deletions/duplications, regulatory region mutations, and deep intronic mutations will not be detected. Deletion/duplication breakpoints will not be determined.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81479 x 2
Components
Component Test Code*Component Chart NameLOINC
2003173CCM DELDUP Specimen
2003174CCM Deletion/Duplication Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • CCM1/KRIT1, CCM2, CCM3/PDCD10
  • Cerebral Cavernous Angioma
  • Familial Cerebral Cavernous Malformation deletion/duplication assay
  • MGC4607