Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10
Use
This test is aimed at individuals with relevant clinical features or a suspected diagnosis of familial cerebral cavernous malformations (CCM). It is particularly relevant for individuals of Hispanic ancestry from the American Southwest region, or those with multiple CCMs, or a single CCM paired with a family history of the condition. The test helps confirm a diagnosis which can influence patient management and genetic counseling.
Special Instructions
The test is appropriate for those with a clinical or suspected diagnosis of familial cerebral cavernous malformations. It requires Sanger Sequencing focusing on exon 10 of the KRIT1/CCM1 gene, and involves specimen collection from blood, buccal, saliva, or tissue.
Limitations
This test specifically targets exon 10 of the KRIT1/CCM1 gene through Sanger Sequencing, and may not detect structural variants outside of this exon or other genetic loci that could contribute to the condition. Negative results do not rule out the disorder if mutations are present in other genes or areas outside of the tested exon.
New York Approved
Methodology
Sanger
Biomarkers
Result Turnaround Time
12-19 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided