DNA – diagnostic clarity
Our genome spans about 3 billion single-nucleotide locations across 23 chromosomes, each location contains one of 4 DNA nucleotide bases—adenine (A), thymine (T), cytosine (C), or guanine (G).
Genetic, epigenetics and phenotyping is ushering in an era of powerful new diagnostics and treatment methodologies, faster than most clinicians can keep up. But most clinicians don’t have the background to know true quality diagnostics. When a company says they test “over 300 unique SNPs,” it sounds impressive unless you know SNPs (single nucleotide polymorphism) genotyping is an incomplete picture compared to using Next Generation Sequencing (NGS). An SNP is a genetic variant found at a specific single nucleotide genomic location, commonly assumed to be associated with evolutionary changes in our population. SNP testing or “genotyping” involves checking a list of specific nucleotide locations (many times just 1 or 2 locations within a single gene) in an attempt to find common genetic variants that have been mentioned in the research, usually with an “rsID” identification tag. So 300 SNPs sounds many, but there are over 700 million SNPs.
01
Single Gene Sequencing:
Nucleotide locations within a single gene.
02
Gene Panel Sequencing:
Nucleotide locations within a single gene.
03
Whole Mitochondrial Genome Sequencing:
All of the nucleotides in our mitochondrial genome.
04
Whole Exome Sequencing (WES):
Looking at all of the exon (protein/enzyme coding) nucleotide locations within ALL (20,000+) genes.
05
Whole Genome Sequencing (WGS):
Looking at ALL the nucleotide locations (introns and exons) within ALL (20,000+) genes.
06
CNVs (Copy Number Variants):
Are places where an entire gene or segment of a chromosome has been duplicated 1 or more times.
07
Gene Subtypes:
Most commonly used to identify different HLA-Subtypes associated with autoimmune responses.
08
“De Novo” variants
Which are spontaneous variants that weren’t inherited by your parents which also requires genetic testing data from both parents.