Table 2.

Genetically confirmed diagnosis and diagnostic methods

		Rapid ES
		Conclusive diagnosis	No diagnosis	Total
Conventional genetic testing	Conclusive diagnosis	6 - 22q11 deletion syndrome (2 ×) - Mowat–Wilson syndrome - Renal cysts and diabetes syndrome - Trisomy 21 - Turner syndromea	0	6
	No diagnosis	6 - Costello syndrome - Developmental and epileptic encephalopathy - Noonan syndrome (3 ×) - X-linked myotubular myopathy	48 Undiagnosed patients	54
	Total	12	48

ES exome sequencing

^ain this case, rES detected a possible 45,X0 based on variant characteristics on the X-chromosome, the conventional genetic test, performed in parallel to rES, confirmed a 45,X0 chromosome profile