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Tumor Genomic Testing: Cancer Mutations, Targeted Therapy, and Results

Understand tumor genomic testing, how cancer mutations are matched to targeted therapy, what result categories mean, and why an actionable target may not work.

Tumor genomic testing creates a molecular profile of cancer by examining genes, DNA changes, RNA alterations, and sometimes genome-wide biomarkers that may influence diagnosis...

Variant of Uncertain Significance (VUS): Genetic Test Results and Meaning

Learn what a variant of uncertain significance means, why VUS results occur, what they should not change, how reclassification works, and what to ask next.

A variant of uncertain significance, or VUS, is a DNA change for which current evidence cannot show whether it contributes to disease or is...

Whole-Exome Sequencing (WES) Test: Genetic Diagnosis, Variants, and Results

Understand whole-exome sequencing, who may benefit, how trio analysis works, what positive and negative results mean, and why reanalysis can find answers later.

Whole-exome sequencing, usually abbreviated WES or ES, analyzes most protein-coding regions of thousands of genes at the same time. These regions are called exons...

Whole-Genome Sequencing (WGS) Test: DNA Variants, Disease Risk, and Results

Understand what whole-genome sequencing tests, what positive, negative, and uncertain WGS results mean, its limitations, disease-risk findings, privacy issues, and next steps.

Whole-genome sequencing (WGS) examines nearly all of a person’s DNA in a single test. Unlike tests limited to one gene, a gene panel, or...

X-Linked Genetic Test: Inheritance Pattern, Carrier Risk, and Results

Learn how X-linked genetic tests identify variants, how inheritance and carrier risk work, what positive, negative, and VUS results mean, and which follow-up steps matter.

An X-linked genetic test looks for a disease-related change in a gene on the X chromosome. The result can help diagnose symptoms, confirm whether...

Alpha-1 Antitrypsin Deficiency Genetic Test: SERPINA1, Liver, Lung, and Results

Learn how SERPINA1 genetic testing, AAT blood levels, and protein phenotyping diagnose alpha-1 antitrypsin deficiency and guide lung, liver, and family follow-up.

An alpha-1 antitrypsin deficiency genetic test examines the SERPINA1 gene for variants that lower the amount or function of alpha-1 antitrypsin, often shortened to...

APOB Genetic Test: High LDL Cholesterol, Heart Risk, and Results

Understand how APOB genetic testing can identify LDL-raising familial hypercholesterolemia or LDL-lowering hypobetalipoproteinemia and how results guide treatment and family screening.

An APOB genetic test looks for inherited variants in the gene that makes apolipoprotein B, the main structural protein on LDL and several other...

APOE Genotype Test: Cholesterol, Alzheimer Disease Risk, and Results

Understand APOE ε2, ε3, and ε4 genotype results for cholesterol, late-onset Alzheimer susceptibility, and ARIA risk before anti-amyloid treatment.

An APOE genotype test identifies which two common APOE alleles—ε2, ε3, or ε4—a person inherited. APOE helps move cholesterol and other fats through the...

Arrhythmogenic Cardiomyopathy Genetic Test: PKP2, DSP, DSG2, and Results

Learn how PKP2, DSP, DSG2, and other arrhythmogenic cardiomyopathy genetic results are interpreted and used for diagnosis, exercise counseling, treatment, and family screening.

An arrhythmogenic cardiomyopathy genetic test looks for inherited variants that weaken heart-cell connections or alter other pathways involved in ventricular rhythm and muscle structure....

Brugada Syndrome Genetic Test: SCN5A Gene, Heart Rhythm Risk, and Results

Learn how the SCN5A genetic test supports Brugada syndrome diagnosis, what positive, negative, and uncertain results mean, and how findings guide fever precautions, treatment, and family screening.

Brugada syndrome is an inherited electrical heart disorder that can increase the risk of dangerous ventricular rhythms, fainting, cardiac arrest, and sudden death. Its...

Cardiovascular Genetic Panel Test: Heart Disease Genes, Risk, and Results

Understand what a cardiovascular genetic panel tests, who may benefit, how pathogenic and uncertain results are interpreted, and how findings can guide care and family screening.

A cardiovascular genetic panel examines multiple genes associated with inherited heart conditions in a single test. It may be used when a person has...

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Genetic Test: RYR2 and Results

Learn how RYR2 genetic testing supports CPVT diagnosis, what positive, negative, and uncertain results mean, and how findings guide treatment, exercise safety, and family screening.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited rhythm disorder in which physical exertion or intense emotion can trigger dangerous ventricular arrhythmias. The resting...

Dilated Cardiomyopathy Genetic Test: TTN, LMNA, MYH7, and Results

Learn how TTN, LMNA, and MYH7 genetic testing supports dilated cardiomyopathy diagnosis, how results influence rhythm and heart-failure care, and how families are screened.

Dilated cardiomyopathy (DCM) occurs when a heart ventricle—usually the left ventricle—enlarges and loses pumping strength for reasons not explained solely by coronary artery disease,...

Factor V Leiden Genetic Test: Blood Clot Risk, Mutation, and Results

Learn what the Factor V Leiden genetic test detects, how heterozygous and homozygous results affect venous clot risk, and when findings may influence treatment, pregnancy, estrogen, surgery, and family testing.

Factor V Leiden is a specific inherited change in the F5 gene that increases susceptibility to venous blood clots. It is most strongly associated...

Familial Atrial Fibrillation Genetic Test: Heart Rhythm Risk and Results

Learn when familial and early-onset atrial fibrillation genetic testing may help, how results can reveal cardiomyopathy risk, and why stroke prevention and rhythm treatment remain clinically based.

Atrial fibrillation (AF) is common, especially with aging, high blood pressure, obesity, sleep apnea, valve disease, alcohol exposure, and other acquired factors. In some...

Familial Hypercholesterolemia Genetic Test: LDLR, APOB, PCSK9, and Results

Learn how LDLR, APOB, and PCSK9 genetic testing supports familial hypercholesterolemia diagnosis, what results mean, and how findings guide treatment and cascade screening in adults and children.

Familial hypercholesterolemia (FH) is an inherited disorder in which low-density lipoprotein cholesterol (LDL-C) is elevated from birth, creating decades of exposure that can cause...

Familial Partial Lipodystrophy Genetic Test: LMNA, PPARG, and Results

Learn how LMNA and PPARG genetic testing supports familial partial lipodystrophy diagnosis, how subtypes differ, and how results guide metabolic, liver, cardiac, and family care.

Familial partial lipodystrophy (FPLD) is a group of inherited disorders in which subcutaneous fat is lost from particular body regions while it is preserved...

GCK MODY Genetic Test: Mild Fasting Hyperglycemia, Diagnosis, and Results

Learn how the GCK-MODY genetic test confirms lifelong mild fasting hyperglycemia, why most people need no medication, and how fetal inheritance changes pregnancy management.

GCK-MODY is an inherited form of mild, stable hyperglycemia caused by a change in the glucokinase gene. Glucokinase acts as a glucose sensor in...

Gout Genetic Risk Test: Uric Acid Genes, SLC2A9, ABCG2, and Results

Learn what a gout genetic risk test can reveal about SLC2A9, ABCG2, uric acid handling, polygenic risk, HLA-B*58:01, diagnosis, and treatment.

A gout genetic risk test examines inherited variants that influence serum urate and the likelihood of developing gout. Most tests focus on common variants...

Hereditary Hemochromatosis Genetic Test: HFE C282Y, H63D, and Results

Understand HFE C282Y and H63D genetic test results, penetrance, iron studies, organ assessment, phlebotomy treatment, and family screening for hereditary hemochromatosis.

A hereditary hemochromatosis genetic test looks for variants that can disrupt the body’s regulation of iron absorption. Most first-line tests examine the HFE gene,...