| Interpretive Data: |
Background Information for Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2 and CCM3) Deletion/Duplication with Reflex to (CCM2) Sequencing with Reflex to (CCM3) 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).
Genes Tested: KRIT1 (CCM1), CCM2, PDCD10 (CCM3).
Clinical Sensitivity: 85 percent.
Methodology: Bidirectional sequencing of the KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) coding regions and intron-exon boundaries. Multiplex ligation-dependent probe amplification (MLPA) of the entire KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) coding regions, with the exception of exon 7 of KRIT1 (CCM1).
Analytical Sensitivity and Specificity of Sequencing: 99 percent.
Analytical Sensitivity and Specificity of MLPA: 90 and 99 percent, respectively.
Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. Regulatory region mutations and deep intronic mutations will not be detected. Deletion/duplication breakpoints will not be determined. Deletions and duplications of KRIT1 (CCM1) exon 7 will not be detected.
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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| Note: |
CCM1 sequencing is performed on all samples. If results do not explain the clinical scenario, then deletion/duplication testing for CCM1, CCM2 and CCM3 will be added. If deletion/duplication results do not explain the clinical scenario, then CCM2 sequencing will be added. If CCM2 sequencing results do not explain the clinical scenario, then CCM3 sequencing will be added. Additional charges apply.
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| CPT Code(s): |
CCM1 Sequencing: 83891 Isolation; 83898 x16 Amplification; 83904 x16 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report.
If reflexed to Del/Dup: 83896 x2 Nucleic Acid Probes; 83898 x2 Amplification; 83914 x2 Extension; 83909 x2 Capillary electrophoresis. If reflexed to CCM2 Sequencing, add 83898 x10 Amplification; 83904 x10 Sequencing; 83909 Capillary electrophoresis. If reflexed to CCM3 Sequencing, add 83898 x7 Amplification; 83904 x7 Sequencing; 83909 Capillary electrophoresis. - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
Cerebral Cavernous Angioma (Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2 and CCM3) Deletion/Duplication with Reflex to (CCM2) Sequencing with Reflex to (CCM3) Sequencing)
, Cerebral Cavernous Malformation (KRIT1) (Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2 and CCM3) Deletion/Duplication with Reflex to (CCM2) Sequencing with Reflex to (CCM3) Sequencing)
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