Molecular diagnostics core facility

Molecular analysis of solid tumors allows for personalized treatment approaches based on the specific genetic alterations present in an individual's tumor. This can help match patients with targeted therapies that are more likely to be effective, improving treatment outcomes and reducing unnecessary side effects. Molecular analysis of solid tumors can identify specific genetic alterations and molecular pathways that drive tumor growth and progression and could be targetable by tailored therapy. Next-genome sequencing (NGS) allows for the simultaneous analysis of multiple genes or genomic regions as well as tumor mutation burden and microsatellite instability, providing comprehensive genetic profiling of solid tumors.

Human papillomavirus (HPV) is a common sexually transmitted infection that can cause various types of warts and has been associated with certain types of cancer, such as cervical, oropharyngeal, anal, vaginal, and penile cancer. HPV testing is performed by real-time PCR with full genotyping. Real-time PCR is able to detect and identified all clinically important low-risk and high-risk HPVs.

Whole exome sequencing technology is to analyze entire human (or other organisms) exomes comprehensively and accurately. Genomic DNA is first randomly fragmented using sonication or nebulization, and then are ligated to a platform-specific set of double-stranded adapters to generate a shotgun library. Subsequently, these library fragments are amplified in situ by hybridization and extension from complementary adapters. NGS is preformed using the NovaSeq 6000 platform, a microfluidic device to contain the amplified fragments of the shotgun library, followed by an imaging step that collects data from fragments being actively sequenced. WES is more economical and higher throughput approach to WGS enabling deeper sequencing and detection of mosaics or somatic mutations.

Vitamin D3 analysis by LC-MS quantifies the metabolite 25OH-VitD3, distinguishing between epi-25OH-D3 and 25OH-D3. This method precisely measures these forms of vitamin D metabolites, important for assessing overall vitamin D status and its various health impacts.