Predictive Genetic Testing: Disease Risk, Results, and What It Means
Predictive genetic testing looks for inherited variants associated with a disease that a person does not currently have. It can identify an increased chance...
Prenatal Genetic Testing: Screening, Diagnosis, Risk, and Results
Prenatal genetic testing can estimate or diagnose certain chromosome and gene conditions during pregnancy. Screening tests—such as cell-free DNA, first-trimester screening, and the second-trimester...
Presymptomatic Genetic Testing: Inherited Disease Risk and Results
Presymptomatic genetic testing looks for a known disease-causing genetic change in someone who does not currently have symptoms of the condition. It is most...
Single-Gene Genetic Test: Mutation Results, Disease Risk, and Meaning
A single-gene genetic test examines one selected gene because the medical question points strongly to that gene or because a specific familial condition is...
Somatic Genetic Testing: Tumor Mutations, Cancer Treatment, and Results
Somatic genetic testing examines acquired changes in cancer cells. These changes develop during a person’s lifetime and help distinguish tumor cells from most normal...
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...



















