{"product_id":"cavernomatosis-cerebral-familiar-panel-por-exoma-clinico-seq-mlpa-3-genes","title":"FAMILIAR CEREBRAL CAVERNOMATOSIS: CLINICAL EXOME PANEL (Seq. \u0026amp; MLPA) – 3 genes","description":"\u003cp\u003eThe Familial Cerebral Cavernomatosis Panel analyzes three genes associated with inherited cerebral cavernous malformations, characterized by multiple vascular lesions in the central nervous system that can cause seizures, cerebral hemorrhages, headaches, focal neurological deficits, or progressive symptoms. The combination of next-generation sequencing (NGS) and multilayered light-dependent pulsed imaging (MLPA) allows for the detection of point variants, small insertions\/deletions, and rearrangements in the most relevant genes (KRIT1, CCM2, PDCD10), which are responsible for the majority of familial cases. This study facilitates accurate molecular diagnosis, genetic counseling, and early detection in asymptomatic relatives. The complete list of genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417227530,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}],"url":"https:\/\/www.genotica.com\/en\/products\/cavernomatosis-cerebral-familiar-panel-por-exoma-clinico-seq-mlpa-3-genes","provider":"Genotica","version":"1.0","type":"link"}