Genetic testing analyzes DNA to identify variants—either inherited or acquired—that influence how the body functions, processes nutrients, and responds to disease. Unlike standard blood tests that measure substances circulating in the body, genetic tests examine the underlying molecular code that can predispose a person to certain conditions, affect how medications or nutrients are metabolized, or directly drive disease.

HealthMatters tracks both inherited genetic variants—present from birth and passed through families—and acquired (somatic) mutations, which develop over time in specific cell populations and are not inherited.

What this category includes

Methylation and nutrient metabolism variants
Variants in genes such as MTHFR can affect how the body processes folate and regulates homocysteine levels. These inherited single nucleotide polymorphisms (SNPs) are associated with differences in cardiovascular risk, methylation efficiency, and B vitamin metabolism. Common variants include C677T and A1298C.

Molecular mutation testing
Acquired mutations in genes such as JAK2 are linked to specific diseases, particularly blood disorders. For example, JAK2 mutations are strongly associated with Polycythemia Vera and other myeloproliferative neoplasms. These tests use PCR-based or sequencing methods to detect mutations in blood or bone marrow cells and are used for diagnosis and disease classification—not hereditary screening.

How to interpret genetic results

Genetic test results use terminology that differs from standard lab testing:

Detected / Not Detected — Used for mutation testing to indicate whether a specific genetic change is present
Homozygous / Heterozygous — Used for inherited variants; homozygous means both gene copies carry the variant, heterozygous means one copy does
Variant / Wild-type — Variant indicates a change from the reference sequence; wild-type indicates the typical (non-mutated) sequence

A detected or variant result does not always mean disease is present. Interpretation depends on clinical context, symptoms, and related laboratory findings.

Related biomarkers

Genetic results are most meaningful when interpreted alongside functional biomarkers. For example:

MTHFR variants alongside homocysteine levels
JAK2 mutation results alongside complete blood count (CBC), hemoglobin, hematocrit, and erythropoietin

Tracking both genetic and functional data over time provides a more complete and actionable view of health than either in isolation.

Biomarkers included in this panel:

JAK2 Exon 12 Mutation

Whole Blood

The JAK2 Exon 12 mutation is a genetic test used to help diagnose certain myeloproliferative neoplasms (MPNs)—a group of blood disorders where the bone marrow produces too many blood cells. This mutation is most commonly associated with Polycyt

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Genetics

What this category includes

How to interpret genetic results

Related biomarkers

Biomarkers included in this panel:

JAK2 Exon 12 Mutation

Methylenetetrahydrofolate Reductase (MTHFR), DNA

MTHFR

rs1801131 (MTHFR)

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