SOLUCIONES GENÉTICAS PARA DOCTORES & PACIENTES
FERTILIDAD
Cada jornada de fertilidad es diferente y, por lo tanto, la ayuda que los pacientes necesitan es diferente. Queremos ayudarte a ofrecer el mejor tratamiento a tus pacientes.
CLINICAL
Uno de los principales desafíos de la medicina genética actual es apoyar el diagnóstico clínico y proporcionar atención de preventiva en salud. Amplexa Genetics desarrolla pruebas genéticas clínicas integrales.
NEUROLOGÍA
Ofrecemos la prueba relevante para pacientes que padecen epilepsia, discapacidad intelectual, trastorno del espectro autista con o sin epilepsia.
PUBLICACIONES AMPLEXA
Encuentra nuestras publicaciones aquí:
Applying cellular fixation and cell-type isolation for single-cell sequencing
Amplexa has supported Prof. Ditte C. Andersens-group in applying and validating a novel technique for cell isolation for single-cell sequencing that allows the samples to be stored at -80 degrees for a prolonged period before further single-cell library preparation.
Incorporating epilepsy genetics into clinical practice: a 360° evaluation
We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patients with epilepsy of unknown aetiology onset < 2 years; treatment resistant epilepsy; or familial epilepsy were referred for counseling and testing.
Importance of size of gene panels in diagnostics of children with epilepsy
Amplexa Genetics has in collaboration with three German laboratories; The Center for Human Genetics and Laboratory Diagnostics, CEGAT and Medical Genetics Center, has approved and published the article "Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters".