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



















