Table 4. DYSCERNE feedback on genetic testing.

Level of submitting node	DYSCERNE suggested diagnosis	Testing result
D	Blepharophimosis–epicanthus inversus	P
D	Bohring-Opitz	Due
E	Börjeson–Forssman–Lehman	Due
E	Brachydactyly–mental retardation	Due
D	BRWD3 mental retardation	N
D	Chromosomal disorder (aCGH)	Not tested
D	Chromosomal disorder (aCGH)	Not tested
D	Chromosomal disorder (aCGH)	Not tested
D	Chromosomal disorder (aCGH)	Not tested
E	Coffin–Lowry	P
E	COFS	P
D	Congenital myopathy	N
E	Cornelia de Lange	P
D	Kabuki	P
D	Kabuki	No feedback
E	Kleefstra	Not tested
D	Lamin A/C deficiency	P
E	Meier–Gorlin	P
E	Mowat–Wilson	N
D	Mucopolysaccharidosis	P
D	Mucopolysaccharidosis	No feedback
D	MULIBREY	Due
E	Multiple sulphatase deficiency	P
D	Myotonic dystrophy	N
E	New syndrome	P (exome)
E	Noonan with loose-anagen hair	P
D	Pallister–Killian	P
D	Ras-MAPK	N
D	Ras-MAPK	N
D	Ras-MAPK	P
D	Ras-MAPK	No feedback
D	Robinow	Due
D	Rothmund–Thomson	P
E	Say–Barber–Biesecker type	Due
D	Sensenbrenner	P
E	Townes–Brocks	P
D	Trichotiodystrophy	Not tested
E	Undiagnosed	P (exome)
E	Weaver	Not tested
D	X-linked inactivation studies	N

Abbreviations: D, developing node; E, established node; P, positive, confirmation of diagnosis; N, negative, refuted diagnosis.