Microarray Analysis Software for Carrier Screening Research

Thermo Fisher Scientific offers powerful microarray solutions that are powered with robust workflows that make it easy to obtain consistent, reliable, and high-quality results critical to carrier screening research.

Our complete microarray platform includes assays, automated and manual target preparation options, fully kitted reagents, an array processing instrument, and data analysis software for simplified interpretation and reporting. These tools support research laboratories to help maximize operational time.

Reproductive Health Analysis Software (RHAS) for cytogenetic and variant analysis enables visualization and summarization of chromosomal aberrations, genotyping of specified variants, as well as SMN1 research.

RHAS provides tools to:

• Perform genotyping of CEL files from CarrierScan assay plates
• Run QC, copy number, genotyping, variant determination, and SMN1 study algorithms in selected workflows
• View sample QC data in tables and graphs
• View variant data in cluster plots for all probe sets
• View variant data in tables or as a batch summary
• Export your data in various formats for use in third-party software
• View SMN study results in table and graphical formats

Our cloud-based, fit-for-purpose interpretation and reporting research software is powered by Igentify™ and follows the American College of Medical Genetics and Genomics (ACMG) tiers 1-3 and provides coverage of >600 of autosomal, X-linked recessive diseases. It is capable of analyzing tens of thousands of sequence variants, including those involved in spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), cystic fibrosis, sickle cell disease, Tay-Sachs disease, and hemoglobinopathies.

Carrier Reporter Software also enables research labs to consolidate their microarray results with SMN1/2 and FMR results from the CarrierMax Reporter Software. 

CarrierMax Reporter Software supports analysis for the CarrierMax FMR1 and SMN1/2 assays. The software is used in conjunction with GeneMapper Software, which is a flexible fragment analysis software package that provides quality DNA sizing and allele calls for all Applied Biosystems genetic analyzers. This software is designed to support multi-application functionality, including analysis of amplified fragment length polymorphism (AFLP), loss of heterozygosity (LOH), microsatellites, and SNP genotyping.

CarrierMax software capabilities include:

• Summary of samples analyzed
• Translation of selected GeneMapper software peaks to CGG repeats
• Consolidation of CGG repeat alleles identified  
• Final FMR1 classification
• Translation of selected GeneMapper Software peaks to SMN1 and SMN2 exon 7 copy number
• Report of detected 2 + 0 associated SNPs
• Final SMN1 exon 7 carrier classification
• Results export for interpretation and reporting