Human Genetics
Genetic testing can contribute to the early detection and diagnosis of inherited disorders and support personalised treatment planning. Depending on the clinical question, individual genes or multiple relevant genes are analysed as part of a panel. Next-generation sequencing (NGS) enables the simultaneous analysis of numerous genes and the detection of various genetic alterations, depending on the assay and analysis method used. PCR-based methods are suitable for the targeted analysis of specific variants. Our key areas of focus in human genetics include:
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Inherited Disorders and Genetic Predispositions
The analysis of disease-associated genes supports the investigation of inherited disorders and the identification of genetic predispositions, for example to hereditary cancer syndromes.. - Non-Invasive Prenatal Testing (NIPT)
The analysis of cell-free DNA in maternal blood enables screening for selected chromosomal abnormalities, particularly trisomies 13, 18 and 21. - Pharmacogenetics
Genetic variants can influence how medicines are metabolised, as well as their efficacy and tolerability. Pharmacogenetic analyses provide information that, alongside other clinical factors, can support individually tailored medication selection and dosing.
HiSS Diagnostics offers a comprehensive portfolio for your human genetics workflow:
We support you in establishing individual workflows and provide personal consultation on product specifications and areas of application.
cfgDNA Normal Female Standard Background (1ug in TE buffer)
Control & reference materials
Price on request
Seraseq® 22q11 Female-Matched Reference Material
Control & reference materials
Seraseq® Cardiomyopathy Reference Material v1
Control & reference materials