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Table 1 Clinical & family history of RB patients and samples selected for NGS

From: Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma

Patient no Age (months)/Sex Laterality Family history Samples analysed by NGS
RB1 4/F Bilateral Father with regressed RB Patient’s blood
RB2 1/F Bilateral Father with regressed RB Patient’s blood
RB3 33/F Bilateral Nil Patient’s blood
RB4 4/M Bilateral Mother and sibling affected with RB Patient’s blood
RB5 0/F Bilateral Nil Patient’s blood
RB6 31/F Bilateral Three siblings affected with RB Patient’s blood
RB7 39/F Bilateral Father affected with RB Patient’s and Father’s blood
RB8 44/M Unilateral Nil Patient’s blood and tumor
RB9 7/F Unilateral Nil Patient’s tumor
RB10 0/M Unilateral Nil Patient’s tumor
RB11 5/F Unilateral One sibling affected with RB Patient’s and Sibling’s blood
RB12 14/M Unilateral Nil Patient’s blood and tumor
RB13 12/M Bilateral Nil Patient’s blood
RB14 44/F Bilateral Father and sibling affected with RB Patient’s blood
RB15 11/M Bilateral Father affected with RB Patient’s blood
RB16 0/M Bilateral Nil Patient’s blood
RB17 0/M Bilateral Father and sibling affected with RB Patient’s blood
RB18 26/F Bilateral Nil Patient’s blood
RB19 36/F Bilateral Nil Patient’s blood
RB20 31/M Bilateral Nil Patient’s blood
RB21 12/M Unilateral Nil Patient’s tumor
RB22 18/F Unilateral Nil Patient’s tumor
RB23 19/M Bilateral Father and sibling affected with RB Patient’s blood
RB24 26/F Bilateral Nil Patient’s blood
RB25 8/F Bilateral Nil Patient’s blood and tumor
RB26 12/F Bilateral Nil Patient’s blood
RB27 66/F Bilateral Nil Patient’s blood
RB28 58/F Unilateral Nil Patient’s tumor
RB29 28/M Unilateral Nil Patient’s tumor
RB30 18/M Unilateral Nil Patient’s tumor
RB31 88/M Unilateral Nil Patient’s tumor
RB32 27/M Unilateral Nil Patient’s tumor
RB33 3/M Bilateral Nil Patient’s blood
  1. The age at which first sign was detected is given in months. Laterality was confirmed by the clinical investigations and imaging (CT Scan/MRI, Ultrasound, Retcam). Family history was ascertained by three or four generation pedigree. NGS was performed on patient’s tumor wherever available. In three patients (RB8, RB12 and RB25), both blood and tumor samples were analyzed. In two families, affected members were also included for NGS along with patients (RB7 and RB11).
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