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NZOZ genomed
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Genetic testing
> Myopathy
Genetic testing
Genetic testing
Waluta
Myopathy
Myopathy (metabolic)
Test code: MIOPM-SNGSMost common metabolic myopathies. NGS analysis of the entire coding sequence of the PYGM and CPT2 genes responsible for the most common types of metabolic myopathies: glycogen storage disease type V (muscle glycogen phosphorylase deficiency) and carnitine palmitoyltransferase II deficiency.
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
Myopathy congenital
Test code: MIOP-SNGSNGS analysis of the entire coding sequence of the RYR1, DNM2 and NEB genes, responsible for the most common congenital myopathies.
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



