TABLE III. Primary Indications for Genetic Testing.

Ascertainment	N = 95	%	Dx at birth–5 years, n = 44 (46.3%)	Dx at 6–10 years, n = 23 (24.2%)	Dx at ≥11 years, n = 26 (27.4%)
Prenatal	n = 2	2.1
Advanced maternal age	1	1.1
Elevated maternal alpha fetoprotein	1	1.1
Development and behaviors	n = 65	68.4
Speech and/or motor delays	28	29.5	26 (59.1%)	2 (8.7%)	0
Learning disability/intellectual disability	21	22.1	2 (4.5%)	11 (47.8%)	8 (30.7%)
Autism spectrum disorder	4	4.2	3 (6.8%)	0	1 (3.8%)
Other behavior/psychiatric problemsa	12	12.6	1 (2.2%)	6 (26.0%)	5 (19.2%)
Medical features	n = 28	29.5
Dysmorphic featuresb	7	7.4	5 (11.4%)	2 (8.7%)	0
Microorchidism, delayed/incomplete puberty or testosterone deficiency	11	11.6	0	0	11 (42.3%)
Tall stature	2	2.1	0	1 (4.3%)	1 (3.8%)
Other		8.4
Radioulnar synostosis	1		0	1 (4.3%)	0
Congenital heart defectsc	2		2 (4.5%)	0	0
Cleft palate/Pierre-Robin	1		1 (2.2%)	0	0
Micropenis in infancy	1		1 (2.2%)	0	0
Hypotonia	2		2 (4.5%)	0	0
Intention tremor	1		1 (2.2%)	0	0

^aBehavioral/psychiatric problems included attention deficits/ADHD, tantrums, impulsivity, mood instability, and bipolar disorder.

^bDysmorphic features listed include: plagiocephaly, hypertelorism, epicanthal folds, retrognathia, clinodactyly, and single palmar crease. One subject had dysplastic ears and a diagnosis of branchio-oto-renal syndrome.

^cCongenital heart defects included ventricular septal defect and L-transposition of the great arteries with ASD and VSD.