Some of our disease-specific reference materials are well-suited to addressing common difficulties in NGS.
Control material available for:
MSH2 – Exon 1 deletion (GC content 65.7%)Also MSH2 – Exons 1-2 deletion; MSH2 – Exons 1-6 deletionSee: 11/218: MLH1/MSH2 Exon Copy Number Reference Panel
MSH2 - Intron 5 c.942+3A>T at Exon 5 /Intron 5 junction. Splice site mutation next to start of a 27bp intronic poly‐A tractExon 5 --ATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGC—Intron 5
See: 11/218: MLH1/MSH2 Exon Copy Number Reference Panel
Intra-chromosomal inversion (Chr. X)
Samples within the panel contain this inversion on the X-chromosome in hemizygous and heterozygous form.
See: 08/160: WHO International Genetic Reference Panel for Haemophilia A Intron 22 inversion
Putative control material available for:
Probable Chr.15 uniparental isodisomy in 07/234 sample within panel 09/140: WHO International Genetic Reference Panel, Prader Willi and Angelman Syndromes – isodisomic mutation has been inferred but awaits confirmation