ARUP's Laboratory Test Directory

Cerebral Cavernous Malformation (CCM1) Sequencing : 2003152
[ image for: Patient History for CCM]
Patient History for CCM
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: CCM1 FGS

Ordering Recommendation: Diagnostic testing for familial cerebral cavernous malformation. Predictive testing for familial cerebral cavernous malformation.
Methodology: Polymerase Chain Reaction/Sequencing
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) 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: KRIT1 (CCM1).
Clinical Sensitivity: 40 percent.
Methodology: Bidirectional sequencing of the KRIT1 (CCM1) 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 KRIT1 (CCM1), are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81479
Cross References: CCM1 Sequencing (Cerebral Cavernous Malformation (CCM1) Sequencing) , Cerebral Cavernous Angioma (Cerebral Cavernous Malformation (CCM1) Sequencing) , KRIT1 Sequencing (Cerebral Cavernous Malformation (CCM1) Sequencing)