- Genetic Tests
- Genetic Counseling
- SANCO prenatal test
- RHD SANCO test
- Infano test
- Parento test
- Genetic knowledge database
- Polgenom
- Certificates
- Team
- Make an appointment
- Contact
Badania genetyczne
Epilepsy
Progressive myoclonic epilepsy
Test code: CSTB-1Progressive myoclonic epilepsy (EPM1), Unverricht-Lundborg disease (ULD).
Identification of an expansion of the (CCCCGCCCCGCG)n motif repeat in the CSTB gene. This expansion represents the most common genetic cause of EPM1 (90% alleles)
We perform genetic testing from:
Childhood absence epilepsy
Test code: CAE-NGSChildhood absence epilepsy (CAE). NGS analysis of 6 genes related to CAE: GABRG2, GABRA1, SLC2A1, JRK, GABRB3 and CACNA1H
We perform genetic testing from:
Dravet syndrome
Test code: DRAVET-NGSDravet and Dravet-like syndrome. NGS analysis of the entire coding sequence of 7 genes related to the disease: SCN1A, GABRG2, SCN2A, SCN9A, GABRA1, PCDH19 and STXBP1.
We perform genetic testing from:
Gene panel - epilepsy
Test code: EPI1-NGSScreening NGS analysis of genes responsible for clinical symptoms of epilepsy and genetic syndromes with epilepsy, based on Whole Exome Sequencing (WES).
We perform genetic testing from: