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Cerebral cavernous malformations panel
Call to order - 01707 707 560.
Online order will be available soon.
Description
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations and retinal vascular lesions in almost 5%.
External Information
Click here for more information about the Cerebral cavernous malformations panel genetic test.Additional information
Samples | EDTA |
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Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 3 |
Genes / Chromosomes / SNPs | CCM2, KRIT1, PDCD10 |
External Information | Click here for more information about the Cerebral cavernous malformations panel genetic test. |