Table 2.

Detection capacities of different genetic testing methodologies

Genetic testing methodology	Number of genes or genetic regions analyzed	Methylation	Noncoding variants	SNV	Small Indels	Balanced structural variants	Unbalanced structural variants	Possibility of secondary or incidental finding/s	Genetic mosaicism detection
Sanger sequencing	1 gene	No	Yes	Yes	< 10 bp	No	No	None	Limited
MLPA	< 50 genetic regions	No	Yes	No	No	No	1 kb–15 Mb	Low	No
Karyotype	All	No	Yes	No	No	Yes	> 5 Mb	1–3%	No
FISH	1	No	Yes	No	No	Yes	> 100 kb	None	Yes
Chromosomal microarray	genome-wide	No	Yes	No	No	No	> 50 kb	1–3%	No
Methylation array	Range of 1 to genome-wide	Yes	Yes	No	No	No	No	Low	Limited
Targeted NGS panels	5–250	No	No	Yes	< 100 bp	No	Variablea	Low	Yes
Broad NGS panels	350–500	No	No	Yes	< 100 bp	No	Variablea	Variablea	Yes
Exome sequencingb	genome-wide	No	No	Yes	< 100 bp	No	Variablea	∼3%	Yes
Genome sequencingb	genome-wide	No	Yes	Yes	Yes	No	Variablea	∼3%	Yes

FISH, Fluorescent in situ hybridization; MLPA, Multiplex ligation probe–dependent amplification; NGS, next-generation sequencing; SNV, Single nucleotide variants.

^aDepending on laboratories and often require confirmation with FISH, chromosomal microarray or MLPA.

^bShort-read sequencing.