Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

BMC Cancer

Table 1 Cohort of patients enrolled in the study and techniques used for their characterization

Cohort	Cytogenetic - MLPA technique	Samples (technique)	Samples (RB)	# samples characterized by NGS or aCGH
65 patients	53 negatives	53 (NGS)	22 (BRB)	21
	53 negatives	53 (NGS)	31 (URB)	3
	12 positives	11 (aCGH)	6 (BRB)	5
		11 (aCGH)	5 (URB)	5
		1 - no DNA available	1 (BRB)	-

ISSN: 1471-2407