Table 2.

Preferred genetic test for Gene abnormalities[1]

Type of genetic mutation	Best test	Alternative test
Gene and exon-level deletions and duplication E.g.: HNPP, DMD	Multiplex ligation dependent probe amplification	Fluorescent in-situ hybridization (FISH)
Short tandem repeat E.g.: Myotonic dystrophy	Fragment analysis
Single nucleotide variant E.g.: CADASIL, Fabry’s	Next generation sequencing	Sanger’s
Indel E.g.: DYT1	Next generation sequencing	Sanger’s