Neuro / Muscular disorders
Karyotyping (Constitutional)
| FISH | Molecular genetics | NGS |
|---|---|---|
| Duchenne muscular dystrophy DMD | NGS Whole Exome Sequencing WES | |
|
Spinal Muscular Atrophy SMA (SMNA1/2 NAIP) Werdnig Hoffmann Disease |
||
| Neurodegeneration with brain iron accumulation (NBIA) PANK2/PLA2G6 MLPA |