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Genetic testing
Ataxia
CANVAS syndrome
Test code: CANVASCerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome. Identification of biallelic RFC1 (AAGGG) repeat expansion. 1
We perform genetic testing from:
venous blood collected
Ataxia
Test code: SCA-NGSChildhood Ataxias. Screening analysis of the coding sequence of genes associated with clinical manifestations of ataxia, based on Whole Exome sequencing (WES).
NOTE - this testing should be preceded by exclusion of the most common types resulting from expansion of repetitive motifs (SCA-1 test).
We perform genetic testing from:
saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
oral cavity swab
(kit dedicated to infants and babies)
Ataxia
Test code: SCA2-NGSAdult ataxias. Screening analysis of the coding sequence of genes associated with clinical manifestations of ataxia, based on Whole Exome Sequencing (WES).
NOTE - this testing should be preceded by exclusion of the most common types resulting from expansion of repetitive motifs (SCA-1 test).
We perform genetic testing from:
saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
oral cavity swab
(kit dedicated to infants and babies)
Ataxia
Test code: SCA-1First-tier testing for frequent spinal cerebellar ataxia (SCA): SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and DRPLA 1
We perform genetic testing from:
venous blood collected



