| Interpretive Data: |
Background Information for Cerebral Cavernous Malformation (CCM2) Sequencing:
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).
Gene Tested: CCM2
Clinical Sensitivity: 15 percent.
Methodology: Bidirectional sequencing of the CCM2 coding regions and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected. Mutations in genes, other than CCM2, are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83898 x10 Amplification; 83904 x10 Sequencing; 83909 Capillary electrophoresis, 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
CCM2 (Cerebral Cavernous Malformation (CCM2) Sequencing)
, Cerebral Cavernous Angioma (Cerebral Cavernous Malformation (CCM2) Sequencing)
, MGC4607 Sequencing (Cerebral Cavernous Malformation (CCM2) Sequencing)
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