[ Reference · Genetics A–Z ]

The Genetics Glossary — 18 Terms, Plain English

BRCA1 to VKORC1, metabolizer types to CLIA certification — the vocabulary of modern genetic testing, defined in two or three sentences each, with a link to the test or guide where that term becomes actionable.

Maintained by the Gene Matrix clinical teamMedically reviewed by Shawn Desai, MD, PhDAugust 2026
[ 18 Terms ][ Cancer · PGx · Nutrition ][ Client-Side Filter ]

The Terms, A–Z

[ 18 Definitions · Plain English ]
18 / 18
Gene · Hereditary Cancer

BRCA1

A tumor-suppressor gene that repairs damaged DNA. Pathogenic BRCA1 variants raise lifetime breast cancer risk to up to 72% and ovarian cancer risk to up to 44%. Testing is the first step in NCCN-guided enhanced screening.

BRCA Test →
Gene · Hereditary Cancer

BRCA2

BRCA1's partner in DNA repair. Variants raise breast, ovarian, prostate, and pancreatic cancer risk — including up to 27% lifetime prostate cancer risk in men by age 80.

BRCA Test →
Syndrome · Hereditary Cancer

Lynch Syndrome

The most common hereditary colorectal cancer syndrome, caused by variants in MLH1, MSH2, MSH6, PMS2, or EPCAM. It raises lifetime colorectal cancer risk to up to 80% and affects roughly 1 in 279 people — most of whom don't know.

Lynch Syndrome Guide →
Gene · Pharmacogenomics

CYP2D6

A liver enzyme gene that metabolizes roughly 20–25% of common medications, including many antidepressants, opioids, and beta-blockers. Your CYP2D6 metabolizer type can make standard doses ineffective or unsafe.

Pharmacogenomics Hub →
Gene · Pharmacogenomics

CYP2C19

Controls metabolism of citalopram, escitalopram, sertraline, clopidogrel, and proton-pump inhibitors. Poor and ultra-rapid metabolizers frequently fail standard therapy — one of the most clinically actionable PGx genes.

Pharmacogenomics Hub →
Gene · Pharmacogenomics

CYP2C9

Metabolizes warfarin, NSAIDs, and several diabetes medications. Alongside VKORC1, it determines safe warfarin dosing — a pairing CPIC guidelines cover explicitly.

Pharmacogenomics Hub →
Gene · Pharmacogenomics

CYP3A4

The liver's most abundant drug-metabolizing enzyme, processing statins, immunosuppressants, and a large share of all prescription drugs. Variants and drug interactions here drive many adverse events.

GenePGx Test →
Gene · Pharmacogenomics

SLCO1B1

A transporter gene that moves statins into the liver. The SLCO1B1 decreased-function variant raises simvastatin muscle-toxicity (myopathy) risk — CPIC guidelines recommend alternative statins or lower doses for carriers.

GenePGx Test →
Gene · Pharmacogenomics

VKORC1

The gene warfarin directly targets. VKORC1 variants change warfarin sensitivity dramatically; combined with CYP2C9, genotype-guided dosing is one of the oldest FDA-recognized pharmacogenomic applications.

GenePGx Test →
Gene · Pharmacogenomics

TPMT

Thiopurine methyltransferase — the enzyme that deactivates thiopurine chemotherapy drugs. Low-activity carriers can develop life-threatening bone-marrow suppression at standard doses, so TPMT testing is standard before treatment.

GenePGx Test →
Gene · Pharmacogenomics

DPYD

Encodes the enzyme that clears fluoropyrimidine chemotherapy (5-FU, capecitabine). DPYD poor metabolizers risk severe, sometimes fatal toxicity at standard doses; CPIC guidelines mandate dose reduction or avoidance.

GenePGx Test →
Gene · Nutrition

MTHFR

Converts folic acid into active folate. Variants carried by up to 60% of people reduce that conversion by 30–70%, making the methylated form of folate the smarter supplement for carriers.

Nutrigenomics Basics →
Gene · Health Risk

APOE

Best known for its role in cholesterol transport and lipid metabolism. APOE variants influence cardiovascular risk profiles and dietary fat response — and the ε4 allele is the strongest common genetic risk factor for late-onset Alzheimer's disease.

GeneCore Test →
Gene · Weight

FTO

The fat mass and obesity-associated gene. Variants found in ~44% of people of European ancestry raise obesity risk by up to 70% via appetite and energy-expenditure pathways — a driver of genetic diet failure, not a destiny.

DNA & Weight Guide →
Field · Medications

Pharmacogenomics (PGx)

The study of how genes affect drug response. Up to 99% of people carry at least one actionable PGx variant, which is why a single PGx panel can guide medication choices for a lifetime.

Pharmacogenomics Hub →
Concept · Pharmacogenomics

Metabolizer Types

Your functional speed at processing a drug: poor (little/no enzyme activity — side effects at standard doses), intermediate (reduced), normal (expected response), rapid, or ultra-rapid (clears the drug before it works). Dose and drug choice should follow the type.

Pharmacogenomics Hub →
Technology

NGS (Next-Generation Sequencing)

Massively parallel DNA sequencing that reads millions of fragments at once — the technology that made 108-gene panels and 230+-gene PGx panels fast and affordable instead of months-long and bespoke.

Our Science →
Certification

CLIA & CAP

CLIA is the U.S. federal standard for laboratory quality; CAP is the College of American Pathologists accreditation program. Gene Matrix testing runs in a CLIA-certified (ID 14D2276402), CAP-aligned, ISO 15189 laboratory — the same class hospitals use.

Our Science →

Definitions Are Free. Answers Are $89/mo.

[ 11 Tests · One Membership ]

Every term in this glossary is analyzed somewhere in the Gene Matrix panel suite — BRCA and Lynch in GeneCancer, CYP genes in GenePGx, FTO and MTHFR in GeneDiet. One membership covers all 11 tests at $89/month ($59/mo billed annually, $712/yr), with results in 5–7 days (48-hour priority available). 30-day money-back guarantee.

[ CLIA · CAP · ISO 15189 ][ Counselor Included ][ HSA / FSA Eligible ]