Asuragen AmplideX repeat expansion tests

AmplideX PCR/CE FMR1 Kit is a test for use in clinical laboratories for detection of the CGG repeats in the fragile X mental retardation (FMR1) gene. The test is intended to aid in the diagnosis of fragile X syndrome and fragile X associated disorders through determination of CGG repeats.

Also available AmplideX mPCR FMR1 kit for measuring the methylation fraction, ready to use, well characterized controls and automated result calling using AmplideX PCR/CE FMR1 Reporter software.

• The kit provides a PCR-only approach based on Triplet Repeat Primed PCR (TP-PCR) design
• Direct injection of PCR products (no PCR clean up) in to Capillary Electrophoresis platforms
• Determination of CGC repeats length up to 200 CGG including low abundance full mutation size mosaics with up to at least 1300 CGG repeats
• Resolution of female homozygous and heterozygous samples and indication of interrupting AGG sequences
• Proven performance as indicated by more than 30 peer reviewed publications

The AmplideX PCR/CE C9orf72 Kit (RUO) is designed for the detection of GGGGCC repeats in the C9orf72 gene. Repeat sequences in the C9orf72 gene are linked to frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).

• Single-tube PCR approach based on a Repeat-Primed PCR (RP-PCR)
• Single PCR reaction for both sizing and screening
• Direct injection of PCR products (no PCR clean up) to Capillary Electrophoresis platforms
• Accurate sizing up to 145 repeats and detection of alleles greater than 145 repeats
• Reveals low-level mosaicism and minor alleles

Myotonic Dystrophy Type I (DM1, Steinert’s Disease) is an inherited form of muscular dystrophy. Associated with large, CTG trinucleotide expansions in the DMPK gene, laboratories have traditionally been challenged to detect and size these repeat sequences accurately and efficiently. AmplideX DM1 Dx Kit provides a simple, sensitive, and streamlined method to analyze DMPK expansions.

• Proprietary PCR solutions for GC-rich amplification and detection
• Direct injection of PCR products into CE instruments
• Accurate sizing of all alleles ≤200 CTG repeats and detection of all alleles >200 repeats
• Optional AGE protocol allows sizing of alleles up to 1000 repeats
• Resolves zygosity and detects mosaicism

The AmplideX PCR/CE HTT Kit (RUO) includes reagents for detection of the HTT CAG repeat region. Repeat region has been linked to Huntington’s disease (HTT). The assay overcomes the challenges of adjacent SNPs and variable CCG repeats to accurately and reliably report the number of repeats.

• Single two-primer, anchor-primed PCR for GC-rich amplification and detection
• Direct injection of PCR products into CE instruments
• Accurate sizing across the entire CAG repeat range (≤200 repeats)
• Identical PCR and CE conditions as with the AmplideX DM1 Dx Kit
• Resolves zygosity and detects large expansions

Copy number variations in SMN1 and SMN2 are associated with the onset and severity of spinal muscular atrophy (SMA). The AmplideX SMA Plus Kit is an in vitro nucleic acid amplification kit intended to aid in the screening of carriers for and diagnosis of spinal muscular atrophy (SMA). The kit quantifies the number of copies of exon 7 of both SMN1 and SMN2, identifies chimeric genes with both SMN1 and SMN2 sequences, and detects SMN1 gene duplication (“silent carriers” status, as well as variant associated with a milder disease phenotype (SMN2 disease modifier).

• Single PCR reaction to determine copy number and variants
• Direct injection of PCR products into CE instruments
• Diagnostic and screening results are reported in less than four hours
• Optimized for use on widely installed CE equipment

Cystic fibrosis (CF) is a life-limiting, autosomal recessive disease caused by the presence of pathogenic alterations in the CFTR gene. While CFTR variants are prevalent in Caucasian and Ashkenazi Jewish populations, they also occur in other groups. AmplideX PCR/CE CFTR Kit has been designed to detect approximately 93% of the pathogenic CFTR variants found in the US population. The kit detects complex yet key CFTR mutations (CNVs, STRs, SNPs, INDELs) and resolves zygosity.

• Broad coverage using only PCR/CE workflow
• Easy-to-use workflow with fewer hands on steps
• Less than 5 hours from DNA to data
• Flexible use on widely installed CE equipment
• Streamlined data analysis via AmplideX Reporter software

AmplideX Reporter software

AmplideX® PCR/CE Reporter is a data analysis and visualization tool designed to support the interpretation of capillary electrophoresis (CE) trace files (FSA files) produced using the AmplideX PCR/CE Kits. Sample analysis and reporting functionality is provided by independent Analysis Modules, which are installed separately from AmplideX PCR/CE Reporter.

This software is CE-IVD marked when used with CE-IVD marked kits.

AmplideX Reporter software analysis modules

The AmplideX Analysis Modules used in conjunction with AmplideX Reporter are data analysis and visualization tools designed to support the interpretation of capillary electrophoresis (CE) trace files (FSA files) produced using

• AmplideX PCR/CE FMR1 kit
• AmplideX SMA Plus kit
• AmplideX CFTR kit
• AmplideX C9orf72 kit

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