DNA Genotyping Analysis
Epistem Pharmacogenomics provides laboratory GCLP-accredited DNA genotyping services.
We specialise in developing and validating genotyping assays as well as undertaking the analysis of clinical samples.
Genotyping services include:
- SNP analysis by NGS or microarrays
- Quantitative or qualitative analysis by RT-PCR
JAK2 V617F allele burden assay
Activation of JAK2 protein results in phosphorylation and translocation of STAT molecules into the nucleus, which act as transcription factors for cytokine signalling pathways. Oncogenic mutations of JAK2 have been described in a number of cancer types. The JAK2 V617F mutation is present in 95% of myeloproliferative neoplasms, slow growing blood cancers derived from myeloid progenitor cells in the bone marrow.
Epistem offers a PCR-based assay for the detection and quantification of JAK2 V617F mutation burden in genomic DNA isolated from whole blood in clinical patients. PCR amplification of the region of the JAK2 gene containing Valine 617 using a probe-based technique is sensitive enough to detect a single SNP and can distinguish between homozygous wild-type, heterozygous and homozygous mutant alleles. Epistem’s JAK2 V617F assay shows 100% accuracy and reproducibility, with sensitivity down to 5% V617F mutation burden.