- 10029 : Limb-girdle muscular dystrophy screening panel
- 10030 : Hereditary motor-sensory neuropathy screening panel
- 10031 : SMA and respiratory distress (IGHMBP2)
- 20003 : Mitochondrial panel (MERRF/ MELAS/Leigh)
- 20004 : Pantothenate-kinase associated nurodegeneration (PANK2)