Evidence-Based Supplement & Herb Guides

Autosomal Dominant Genetic Test: Inheritance Risk and Results

Learn how autosomal dominant genetic tests work, what a 50% inheritance risk means, and how to interpret positive, negative, de novo, and VUS results.

An autosomal dominant genetic test looks for a disease-causing change in a gene where one altered copy can be enough to affect health. The...

Autosomal Recessive Genetic Test: Carrier Risk and Results

Understand autosomal recessive genetic tests, carrier results, 25% pregnancy risk, partner testing, residual risk after a negative result, and reproductive options.

An autosomal recessive genetic test looks for harmful changes in genes where a person usually needs two disease-causing copies—one from each biological parent—to have...

Carrier Screening Test: Genetic Disease Risk, Results, and What It Means

Learn what carrier screening tests show, how positive and negative results affect genetic disease risk, why partner testing matters, and what options follow an at-risk result.

Carrier screening checks whether a person has a genetic variant that could contribute to an inherited condition in a biological child. It is most...

Chromosome Analysis Test: Karyotype, Abnormal Chromosomes, Genetic Disorders, and Results

Learn what a chromosome analysis and karyotype can detect, how abnormal, balanced, mosaic, and normal results are reported, and when microarray or FISH is needed.

A chromosome analysis test, commonly called a karyotype, examines the number and large-scale structure of chromosomes in dividing cells. It can identify an extra...

DNA Test: What It Shows, How It Works, and Results Explained

Learn what DNA tests can show, how sequencing and genotyping work, what positive, negative, and VUS results mean, and which limitations matter before acting.

A DNA test examines genetic material to answer a defined question about health, inheritance, medication response, biological relationships, ancestry, or identity. It does not...

Genetic Diagnostic Test: Positive, Negative, Variant, and Results Explained

Understand positive, negative, and uncertain genetic diagnostic test results, including variant classifications, test limits, family implications, and follow-up.

A genetic diagnostic test looks for a DNA change that may explain a person’s symptoms, physical findings, abnormal laboratory results, or family history. Unlike...

Genetic Panel Test: Multiple Genes, Disease Risk, and Results

Learn how genetic panel tests analyze multiple genes, when panels are useful, how positive, negative, and uncertain results are interpreted, and what limits to consider.

A genetic panel test examines several genes at the same time to look for variants linked to a particular disease, symptom pattern, or inherited...

Genetic Screening Test: Disease Risk, Results, and What It Means

Understand genetic screening tests, disease-risk estimates, positive and negative results, false results, residual risk, and the follow-up needed for confirmation.

A genetic screening test looks for signs that a person, pregnancy, newborn, or population may have an increased chance of a genetic condition. Screening...

Genetic Testing: Types, Benefits, Risks, Results, and What They Mean

Explore genetic testing types, benefits, risks, accuracy, positive and negative results, uncertain variants, privacy issues, and how to choose appropriate follow-up.

Genetic testing examines DNA, chromosomes, RNA, or related biological signals to answer a medical question. It may confirm an inherited disorder, estimate future disease...

Genetic Variant Test: Pathogenic, Benign, VUS, and Results Explained

Understand pathogenic, likely pathogenic, benign, likely benign, and VUS genetic test results, including classification evidence, family testing, and reclassification.

A genetic variant test identifies differences in DNA and evaluates whether they are likely to affect health. The test may target one known family...

Germline Genetic Testing: Inherited Mutations, Family Risk, and Results

Learn how germline genetic testing identifies inherited variants, explains family risk, distinguishes positive and negative results, and guides cascade testing and follow-up.

Germline genetic testing looks for DNA variants that were present from conception and can potentially be passed to children. These variants are usually found...

Mitochondrial DNA (mtDNA) Test: Mutations, Inheritance, and Results

Understand what an mtDNA test detects, how heteroplasmy and tissue choice affect results, what maternal inheritance means, and what to do after a positive, uncertain, or negative finding.

A mitochondrial DNA test looks for harmful changes in the small circle of DNA inside mitochondria, the energy-producing structures found in nearly every cell....

Newborn Genetic Screening Test: Conditions, Results, and Follow-Up

Learn how newborn genetic screening works, which conditions it checks, what abnormal and normal results mean, and how repeat testing and urgent follow-up protect a baby’s health.

Newborn screening is a public health program that checks babies for serious conditions before symptoms are obvious. In the United States, it usually includes...

Pharmacogenetic Testing: Medication Response, Gene Variants, and Results

Understand how pharmacogenetic testing links gene variants to medication response, how metabolizer results are interpreted, which gene–drug pairs are actionable, and how to use results safely.

Pharmacogenetic testing examines inherited DNA variants that can influence how a person processes or responds to certain medicines. A useful result may help a...

Polygenic Risk Score (PRS) Test: Disease Risk, DNA Markers, and Results

Learn how a polygenic risk score combines DNA markers, what percentiles and absolute risk mean, where PRS testing may help, and why ancestry, calibration, and clinical context matter.

A polygenic risk score estimates inherited susceptibility to a common disease by combining the effects of many DNA markers. Unlike a single-gene test that...

Predictive Genetic Testing: Disease Risk, Results, and What It Means

Understand predictive genetic testing, including who may benefit, why an affected relative is usually tested first, what positive and negative results mean, and how results affect care and family.

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

Compare prenatal genetic screening with CVS and amniocentesis, understand cell-free DNA and diagnostic results, and learn how timing, test scope, false positives, and follow-up affect care.

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

Understand presymptomatic genetic testing, who may consider it, how positive and negative results affect inherited disease risk, and what happens next.

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

Learn how single-gene genetic tests work, what pathogenic, negative, and VUS results mean, how they affect disease risk, and why test method matters.

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

Learn how somatic genetic testing finds tumor mutations, guides cancer treatment, uses tissue or liquid biopsy, and distinguishes actionable from uncertain 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...