(polyacrylamide fragment analysis, Taqman, Sequenom iPLEX and Illumina iScan)
Access to high-throughput infrastructure ensures any type of genomic variability can be interrogated.
Polyacrylamide fragment analysis is performed using capillary electrophoresis on an ABI 3730xls. Applications include:
1) locus and genome-wide short tandem repeat marker analysis
2) assessment of repeat expansions (SCA2, 3, 12, 17, FMR1, Huntington and C9orf72 are routine)
3) DNA fingerprinting and Mendelian inheritance checks within pedigrees, to
4) genomic copy number analysis.
Genotyping of single nucleotide polymorphisms (SNPs) is done for individual markers using Taqman chemistry on an ABI7900 platform (assay-by-design or on demand). This is cost effective to do 250,000 SNPs and >60,000 copy number probes are interrogated in 5-1000 samples (typically between $350-600 per sample).