Table 1.

Genetic testing protocol, CHD congenital heart disease

Patient features	What to order
CHD with features suggestive of trisomy 21 or Turner syndrome	Karyotype
	Contact genetics for genetic counseling
CHD with features of trisomy 13 or trisomy 18	STAT FISH for 13, 18, 21, X and Y
	Consult genetics for further testing
Conotruncal congenital heart lesion
Interrupted aortic arch	22q11.2 deletion testing chromosomal microarray
Pulmonary atresia with ventricular septal defect
Tetralogy of fallot
Truncus arteriosus
Malaligned ventricular septal defect and/or features typical of 22q11.2 deletion syndrome
Heterotaxy	Chromosomal microarray heterotaxy panel
CHD without features of the above categories	Chromosomal microarray