Type-1 NF1 constitutional microdeletions (1/2)

MLPA qPCR

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

Supplemental Data Figure 1. Characterization of constitutional deletions in the NF1 region by MLPA and qPCR. Graphs showing the RCN±SD value (y axis) calculated for each locus interrogated (x axis) in MLPA and qPCR assays of the 5 Type-1, 6 Type-2 and 3 atypical NF1 microdeletions. Violet bars and red bars show the assessed loci within NF1 region in MLPA and qPCR, respectively. Green bars and the brown bar are control loci placed in other sites within the genome in MLPA and qPCR, respectively. Dashed green and red lines show, respectively, the extents of Type-1 and Type-2 microdeletions.

MLPA qPCR

Type-1 NF1 constitutional microdeletions (2/2)

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

MLPA qPCR

Type-2 NF1 constitutional microdeletions (1/2)

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

MLPA qPCR

Type-2 NF1 constitutional microdeletions (2/2)

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

MLPA qPCR

Atypical NF1 constitutional microdeletions

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

NF1 somatic deletions in dNFs (1/5)MLPA qPCR

Supplemental Data Figure 2. Characterization of somatic deletions in the NF1 region by MLPA and qPCR. Graphs showing the RCN±SD value (y axis) calculated for each locus interrogated (x axis) in MLPA and qPCR assays of the 16 somatic deletions found in dNFs (except for NF-27 and NF-26 samples, where there is no data available for MLPA) and in qPCR assay of the 5 somatic deletions found in SCNF1–/– samples. Violet bars and red bars show the assessed loci within NF1 region in MLPA and qPCR, respectively. Green bars and the brown bar are control loci placed in other sites within the genome in MLPA and qPCR, respectively. Dashed green and red lines show, respectively, the RCN cutoff values for qPCR (0.81) and MLPA (0.80) below which a deletion is considered.

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

NF1 somatic deletions in dNFs (2/5)

MLPA qPCR

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

NF1 somatic deletions in dNFs (3/5)

MLPA qPCR

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

NF1 somatic deletions in dNFs (4/5)

MLPA qPCR

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

NF1 somatic deletions in dNFs (5/5)

MLPA qPCR

qPCR

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E

NF1 somatic deletions in SCNF–/–

qPCR

Development of a probe-based qPCR assay for the detection of constitutional and somatic deletions in the NF1 gene. Application to genetic testing and tumor analysis. Terribas E, Garcia-Linares C, Lázaro C, Serra E