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NZOZ genomed
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Genetic testing
> Myotonia
Genetic testing
Genetic testing
Waluta
Myotonia
Myotonia
Test code: ZMIO-SNGSMost common myotonies. NGS analysis of the entire coding sequence of the CLCN1 and SCN4A genes responsible for the most common types of non-dystrophic myotonies.
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
Myotonic dystrophy
Test code: DM-POJMyotonic dystrophy (DM) - single type. Screening either for DM1 (CTG repeat expansion in the DMPK gene) or for DM2 (expansion of complex repeat motifs (TG)n(TCTG)n(CCTG)n in the CNBP gene)1.
We perform genetic testing from:
venous blood collected
Myotonic dystrophy
Test code: DM1-DM2Myotonic Dystrophy. Screening for the CTG repeat expansion in the DMPK gene and complex repeat motif(TG)n(TCTG)n(CCTG)n expansion in the CNBP gene 1
We perform genetic testing from:
venous blood collected



