The Terms, A–Z
[ 31 Definitions · Plain English ]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 →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 →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 →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 →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 →CYP2C9
Metabolizes warfarin, NSAIDs, and several diabetes medications. Alongside VKORC1, it determines safe warfarin dosing — a pairing CPIC guidelines cover explicitly.
Pharmacogenomics Hub →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 →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 →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 →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 →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 →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 →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 →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 →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 →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 →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 →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 →GeneCancer
Gene Matrix's 108-gene hereditary cancer panel — BRCA1, BRCA2, the Lynch syndrome genes, TP53, PALB2, and 100+ more — covering 15+ cancer types from an at-home cheek swab, with counseling included for positive results.
GeneCancer Test →GenePGx
Gene Matrix's pharmacogenomics panel: 230+ genes covering 700+ medications, aligned to CPIC, FDA, and DPWG guidance. One cheek swab informs prescribing across psychiatry, cardiology, pain, and oncology for life.
GenePGx Test →Carrier Screening
Testing that shows whether you carry a recessive variant you could pass to a child. Carriers are usually healthy themselves, but when both partners carry the same condition, each child has a 25% chance of being affected.
Explore All Tests →Polygenic Risk Score (PRS)
A score combining the small effects of thousands of common variants into an overall risk estimate for a condition like heart disease or diabetes. Powerful at population scale, but an estimate — not a diagnosis — for any individual.
Our Science →Variant of Uncertain Significance (VUS)
A DNA change whose clinical effect isn't yet established. A VUS is not a positive result and shouldn't drive medical decisions; most are eventually reclassified as benign as evidence accumulates — which is why quarterly reinterpretation matters.
108-Gene Panel Explained →Star Allele
The naming system for pharmacogene variants: CYP2D6*4, CYP2C19*2, and so on. Each star allele defines a haplotype with a known effect on enzyme function, and your two alleles combine into your metabolizer type.
Pharmacogenomics Hub →Haplotype
A set of variants inherited together on the same chromosome. Pharmacogenes are reported as haplotypes (star alleles) because function depends on the combination of variants on each copy — not single SNPs in isolation.
Pharmacogenomics Hub →SNP (Single Nucleotide Polymorphism)
A single-letter DNA difference between people — the most common type of genetic variation. Consumer chips genotype hundreds of thousands of common SNPs; clinical panels deeply analyze the specific SNPs and variants with proven medical actionability.
Lab Methodology Explained →Whole Genome Sequencing (WGS)
Reading essentially all ~3 billion letters of your DNA. Comprehensive for discovery and rare-disease diagnosis, but slower and costlier than targeted panels — overkill when the clinical question concerns known, actionable variants.
Lab Methodology Explained →Exome
The ~1–2% of the genome that directly codes for proteins — where most known disease-causing variants live. Exome-focused analysis (like GeneCore's 130+-gene health panel) concentrates on the regions with the highest clinical yield.
GeneCore Test →Nutrigenomics
The study of how genes affect nutrient processing — lactose tolerance (LCT), caffeine clearance (CYP1A2), vitamin D (VDR/GC), folate activation (MTHFR). It's the science behind matching diet to DNA instead of guessing.
Nutrigenomics Basics →Hereditary Cancer Syndrome
An inherited pattern — Lynch syndrome, hereditary breast and ovarian cancer (BRCA1/2), Li-Fraumeni (TP53) — where a pathogenic variant sharply raises lifetime risk for specific cancers. Roughly 5–10% of cancers are hereditary, and most carriers don't know.
Hereditary Cancer Screening →NCCN Guidelines
The National Comprehensive Cancer Network's evidence-based protocols defining who should get hereditary cancer testing and what to do after a positive result — enhanced screening schedules, risk-reducing options, and cascade testing for relatives.
BRCA Test →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.