Badania genetyczne

Epilepsy

Progressive myoclonic epilepsy
Test code: CSTB-1

Progressive 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)

Time: up to 8 weeks

Price:  990.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  venous blood collected
Childhood absence epilepsy
Test code: CAE-NGS

Childhood absence epilepsy (CAE). NGS analysis of 6 genes related to CAE: GABRG2, GABRA1, SLC2A1, JRK, GABRB3 and CACNA1H

Time: up to 8 weeks

Price:  2500.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Ikona opcji  trophoblast
Dravet syndrome
Test code: DRAVET-NGS

Dravet 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.

Time: up to 8 weeks

Price:  2500.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Gene panel - epilepsy
Test code: EPI1-NGS

Screening NGS analysis of genes responsible for clinical symptoms of epilepsy and genetic syndromes with epilepsy, based on Whole Exome Sequencing (WES).

Time: up to 14 weeks

Price:  3800.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected