Molecular Analysis

The LuminoDx team has decades of experience in the molecular analysis space.  Utilizing platforms like the Applied Biosystems QuantStudio 7, the Biorad QX100, and ELEMENT’s Aviti-24 we can carry out the following analysis: 

• Relative and Absolute nucleic acid quantification 

• SNP Genotyping 

• Copy Number Variation 

• Mutation Detection 

• microRNA profiling 

• Next-Generation Sequencing (NGS) 

• Whole Genome Sequencing  

• Whole Exome Sequencing  

• RNA-Seq (bulk and single cell) 

• Targeted and Amplicon Sequencing 

• Epigenetics 

Analysis details / Definitions 

Nucleic Acid Quantification 

• Relative and Absolute Nucleic Acid Quantification: Relative quantification measures the change in a target gene’s expression compared to a reference control sample, while absolute quantification determines the exact number of copies or concentration of a specific nucleic acid molecule in a sample. 

Genetic Variation and Mutation Analysis 

• SNP Genotyping: This activity identifies specific single-nucleotide polymorphisms (SNPs)—single-base variations in the DNA sequence—to determine genetic differences between individuals or populations. 

• Copy Number Variation (CNV): This analysis detects structural alterations in the genome where sections of DNA are repeated or deleted, varying the number of copies of a specific gene between individuals. 

• Mutation Detection: This process identifies variations or alterations in a DNA sequence, such as insertions, deletions, or point mutations, that differ from the wild-type or normal reference genome. 

Gene Expression Profiling 

• microRNA Profiling: This activity measures the expression levels of microRNAs (small, non-coding RNA molecules) across the genome to understand how they regulate gene expression and cellular processes. 

Next-Generation Sequencing (NGS) 

• Next-Generation Sequencing (NGS): A high-throughput technology that allows for the rapid, massive parallel sequencing of millions of DNA or RNA fragments simultaneously. 

• Whole Genome Sequencing (WGS): This process determines the complete DNA sequence of an organism’s entire genome, including both protein-coding regions and non-coding structural zones. 

• Whole Exome Sequencing (WES): This method targets and sequences only the exons, which are the protein-coding regions of the genome that contain the vast majority of known disease-causing mutations. 

• RNA-Seq (Bulk and Single-Cell): Bulk RNA-Seq measures the average gene expression across a whole population of cells, whereas single-cell RNA-Seq captures the distinct gene expression profile of individual cells to reveal cellular diversity. 

• Targeted and Amplicon Sequencing: This approach selectively sequences specific regions of interest or amplified DNA products (amplicons), allowing researchers to focus high sequencing depth on specific genes or genetic variants. 

• Epigenetics (Sequencing): This activity analyzes heritable chemical modifications to DNA or histone proteins—such as methylation—that alter gene expression without changing the underlying genetic sequence.