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NGS kit for the detection of variants in the genes HBA1/2, HBB, HBD, HBG1/2 and KLF1 associated with thalassemia.
Kit for the amplification of the CAG polymorphic repetition in the genes ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7 associated with spinocerebellar ataxias types 1, 2, 3, 6 and 7.
A system for HLA typing of alleles associated with celiac disease.
NGS panel with targeted enrichment of genes and single nucleotide polymorphisms (SNPs) associated with inherited diseases.
Detection of SNV, InDel and CNV germline mutations for a wide range of cardiac and metabolic diseases by NGS.