Applied Biosystems™ TaqMan™ Copy Number Reference Assay, human, RNase P

• Assays are run with human TaqMan™ Copy Number Assays in a duplex real-time PCR reaction
• Used to detect and measure copy number variations (CNVs) and smaller regions in the human genome
• Two options for genes that can be used as endogenous reference genes in humans are offered: RNase P and TERT
• Designed to unique genomic sequences in the reference genome assembly (build GRCh38) and are required for relative quantitation of copy number targets
• TaqMan™ Copy Number Assays quantitate the gene of interest and normalize to an endogenous reference gene known to be present in two copies in a diploid genome
• Please note that TaqMan™ Copy Number Reference Assays are species specific.
• Assays should be stored at -15°C to -25°C in the dark
• Minimize freeze-thaw cycles

TaqMan™ Copy Number Reference Assay RNase P

• Recommended as the standard reference assay for copy number analysis
• This assay detects the Ribonuclease P RNA component H1 (H1RNA) gene (RPPH1) on chromosome 14, cytoband 14q11.2
• The assay location is chr.14:20343370 on build GRCh38
• It has an 87 bp amplicon that maps within the single exon RPPH1 gene

TaqMan™ Copy Number Reference Assay TERT

• An alternative reference assay recommended in the event that the RNase P assay functions poorly with a sample
• This could be due to chromosomal aberrations or other issues
• This assay targets the telomerase reverse transcriptase (TERT) gene located on chromosome 5, cytoband 5p15.33
• The assay location is chr5:1253257 on build GRCh38
• It has an 88 bp amplicon that maps within exon 16 of the TERT gene