Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication : ARUP Lab Tests

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

Patient History for CCM

Mnemonic: CCM DELDUP

Methodology:	Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed:	Varies
Reported:	Within 21 days
Specimen Required:	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. Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Interpretive Data:	Background Information for Cerebral Cavernous 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 percent for KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) combined. Methodology: 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 MLPA: 90 and 99 percent, respectively. Limitations: Rare diagnostic errors can occur due to probe site mutations. 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. 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.
CPT Code(s):	83891 Isolation; 83896 x2 Nucleic Acid Probes; 83898 x2 Amplification; 83914 x2 Extension; 83909 x2 Capillary Electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
Cross References:	CCM1 (Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication) , CCM2 (Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication) , CCM3 (Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication) , Cerebral Cavernous Angioma (Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication) , KRIT1 (Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication) , MGC4607 (Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication) , PDCD10 (Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication)

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