DNA Testing Glossary

Our comprehensive glossary explains key terms related to DNA testing, including paternity tests, genetic analysis, and more. This guide is designed to help you better understand the terminology and processes involved in DNA relationship testing.

A

AABB
The primary accreditation body for relationship testing laboratories in the United States. AABB accreditation ensures the highest standards of accuracy and is required for DNA test results to be used in legal and immigration proceedings. Our laboratory is fully accredited by the AABB.
Accreditation
A formal process where an independent, authoritative body evaluates a laboratory to verify its competence, impartiality, and adherence to established quality and operational standards. Accreditation ensures that the laboratory produces precise and reliable results. Our laboratory holds accreditations from key international and national bodies, including the AABB, SCC, CAP, CLIA, and ISO 17025.
Alleged Father
The man who is believed or claimed to be the biological father of a child, but whose paternity has not yet been scientifically or legally established. This is a neutral term used before a test result is finalized.
Allele
One of several alternative forms of a specific DNA sequence at a particular location (locus) on a chromosome. Individuals inherit one allele from each biological parent for every locus. The comparison of these inherited alleles forms the basis of all DNA relationship testing.
Amniocentesis
An invasive prenatal diagnostic procedure where a small amount of amniotic fluid, which contains fetal cells, is withdrawn from the uterus by a medical professional. DNA from these fetal cells can be used for relationship testing before birth. This procedure carries a small risk and is typically performed during the second trimester of pregnancy.
At-Home Test
A DNA test conducted for personal knowledge, curiosity, or peace of mind. Participants collect their own DNA samples with a simple mouth swab using our DNA Collection Kit. While the laboratory analysis is identical to our legal test, this test does not include the independently-verified collection required for court or government purposes.
Aunt/Uncle Test
A DNA kinship test performed to determine the statistical likelihood that an individual is the biological aunt or uncle of a child. The DNA Aunt/Uncle Test is often used when the alleged father (the potential aunt or uncle’s sibling) is unavailable for direct paternity testing.
Autosomal DNA
The DNA from the 22 pairs of non-sex chromosomes (autosomes). Autosomal DNA is inherited from both parents and is the standard type of DNA analyzed for paternity, maternity, and other close relationship tests due to its reliable inheritance pattern.
Avuncular
Relating to, or characteristic of, an uncle or an aunt. In the context of DNA testing, this term is used to describe an Aunt/Uncle DNA Test, which is performed to determine the statistical likelihood that an individual is the biological aunt or uncle of a child (their niece or nephew).

B

Base
A core component of DNA, often described as a “letter” in the genetic code. In DNA, there are four different bases: Adenine (A), Thymine (T), Cytosine (C), and Guanine (G). The sequence of these bases determines the genetic instructions for an organism.
Base Pair
The pair of two chemical bases that form the “rungs” of the DNA double helix ladder. In DNA, Adenine (A) always pairs with Thymine (T), and Cytosine (C) always pairs with Guanine (G). The specific sequence of these base pairs forms your unique genetic code.
Biological Father
The man whose sperm fertilized the egg, resulting in the conception of the child. He is genetically the father of the child, as confirmed by a DNA test.
Biological Mother
The woman who contributed the egg that was fertilized to conceive the child.
Buccal Swab
A common, non-invasive method for collecting DNA samples. A sterile swab, similar to a cotton bud, is rubbed firmly against the inside of a person’s cheek to collect epithelial cells, from which DNA is extracted.

C

CAP (College of American Pathologists)
An organization that provides accreditation to laboratories based on internationally recognized standards. CAP accreditation is a mark of high quality and operational excellence in a laboratory setting. Our laboratory is fully accredited by CAP.
Carrier
An individual who has inherited one normal (wildtype) copy and one altered or defective copy of a gene. Carriers typically do not show symptoms of the associated genetic condition but can pass the altered gene to their children.
Chain of Custody
A meticulous, documented protocol that tracks the collection, identification, handling, and transfer of DNA samples, ensuring their integrity from the moment of collection to the reporting of results. For legal tests, this includes sample collection by an impartial third party. A strict chain of custody is essential for a DNA test to be admissible in legal proceedings.
Cheek Swab
See Buccal Swab.
Child Custody & Visitation
The legal framework governing a child’s care. If parentage is disputed during custody proceedings, courts use DNA evidence to scientifically confirm a biological relationship, which is a key factor in establishing a person’s legal standing to seek orders for legal custody (decision-making rights) or physical custody/visitation (parenting time).
Child Support
The legal obligation of a parent to provide financial support for their child. When parentage is not legally established or is being disputed, AABB-accredited DNA test results can be used as definitive proof to obtain or challenge a child support order.
Chorionic Villus Sampling (CVS)
An invasive prenatal diagnostic procedure where a small sample of chorionic villi (placental tissue) is collected by a medical professional. This tissue contains fetal DNA and can be used for relationship testing before birth. CVS is typically performed earlier in pregnancy than amniocentesis and also carries a small risk. See also Non-Invasive Prenatal Paternity Test (NIPP).
Chromosome
Thread-like structures located inside the nucleus of cells, made of protein and a single molecule of DNA. Humans typically have 23 pairs of chromosomes (22 autosomal pairs and one pair of sex chromosomes), inheriting half from each parent.
CLIA (Clinical Laboratory Improvement Amendments)
The U.S. federal regulatory standards that apply to all clinical laboratory testing performed on humans. CLIA certification ensures laboratories meet high standards for accuracy, reliability, and timeliness of test results, representing a benchmark for quality worldwide. Our laboratory is CLIA certified.
CODIS (Combined DNA Index System)
The FBI’s standardized set of genetic markers (loci) used for forensic DNA testing in law enforcement. Our laboratory tests all the CODIS loci plus additional markers, analyzing up to 27 genetic markers in total. This practice meets and exceeds the forensic standard, providing maximum accuracy for your relationship test.
Combined Kinship Index (CKI)
A statistical value reported in secondary relationship tests like grandparent, aunt/uncle, and cousin tests. The CKI is a score that compares the likelihood that the tested individuals are biologically related versus the likelihood that they are unrelated. A CKI value greater than 1.0 provides evidence in favour of the tested biological relationship.
Combined Paternity Index (CPI)
A statistical calculation used to measure the strength of a paternity match. For each genetic marker analyzed, a Paternity Index (PI) is calculated. These individual PI values are then multiplied together to generate the comprehensive CPI. This combined statistic is exceptionally powerful, allowing us to generate Probabilities of Paternity greater than 99.9999%.
Combined Sibling Index
A statistical value used in a DNA sibling test to determine if two individuals are full siblings, half-siblings, or unrelated. Our report provides two separate indices—one for a full sibling relationship and one for a half-sibling relationship—each with a corresponding probability percentage, to clearly present the most likely scenario.
Voluntary agreement and permission given by an individual (or their legal guardian) to undergo DNA sample collection and testing. Informed consent is an ethical and legal requirement for any DNA test.
Contamination
The introduction of foreign DNA to a sample, which can compromise the test results. During at-home collection, this can happen if instructions are not followed carefully, such as touching the swab tip to any surface or with your hands. In cases of contamination, our laboratory will request a new collection to ensure your results are 100% accurate.
Court-Admissible Evidence
Evidence that can be lawfully introduced in a court of law or submitted to a government agency. For DNA test results to be admissible, they must come from a Legal DNA Test that follows a strict chain-of-custody protocol and is performed by an accredited laboratory.

D

Defective Copy
An informal term for a gene variant or allele that has undergone a mutation, causing it to function improperly or not at all. A defective copy of a gene may be associated with a genetic disorder.
Dizygotic Twins (Fraternal Twins)
Twins that result from the fertilization of two separate eggs by two separate sperm. They are genetically as similar as any other full siblings, sharing on average 50% of their DNA. A DNA Twin Test can confirm if twins are dizygotic.
DNA (Deoxyribonucleic Acid)
The molecule that carries the unique genetic instructions for the development, functioning, growth, and reproduction of all known living organisms. DNA is inherited from both biological parents.
DNA Collection Kit
The set of materials provided for gathering DNA samples. This typically includes buccal swabs, sample collection envelopes, instructions, and consent forms.
DNA Fingerprint
See DNA Profile.
DNA Profile
The unique pattern of specific DNA fragments (alleles at various loci) obtained from an individual through DNA analysis. In relationship testing, a child’s DNA profile is compared with those of the other tested parties, such as the alleged father and the mother.
DNA Report
The official document issued by the laboratory that presents the results of the DNA test. It includes the DNA profiles of the tested individuals, the statistical analysis (such as Probability of Paternity and Combined Paternity Index), and a final interpretation of the findings (inclusion or exclusion).
DNA Test / DNA Testing
A laboratory analysis of Deoxyribonucleic Acid (DNA) to identify and compare specific genetic characteristics between individuals to determine if a biological relationship exists.
Dual Process
Our internal quality assurance system that guarantees the accuracy of every test result. Every DNA sample is processed and independently analyzed twice to eliminate the possibility of human error or contamination, ensuring your result is 100% accurate.

E

Exclusion
A DNA test result indicating that the alleged father (or other tested relative) is not the biological relative of the child. This conclusion is reached when there are multiple mismatches between the genetic markers that cannot be explained by natural mutation. The Probability of Paternity in an exclusion is 0%.

F

Family Law
In the United States, family law is primarily governed by statutes enacted by each individual state. These state laws provide the legal framework under which DNA test results are used as powerful evidence to resolve disputes about paternity, custody, and family support.
Full-Sibling
An individual who shares both biological parents with another person. On average, full siblings share about 50% of their DNA.

G

Gene
The basic physical and functional unit of heredity. Genes are specific segments of DNA that carry instructions for building proteins or performing other functions within the body.
Genetic Marker
A specific, identifiable DNA sequence at a particular locus (location) on a chromosome. The STR markers used in relationship testing have variations (alleles) that differ between individuals, allowing us to compare genetic profiles and determine biological relationships.
Genetic Report
See DNA Report.
Genetic Variant
A difference in the DNA sequence when compared to a standard reference sequence. These variants are the basis of genetic diversity and are what make each person’s DNA unique. In DNA relationship testing, we analyze specific genetic variants (such as alleles and STRs) to identify the patterns of inheritance between individuals.
Genotype
An individual’s unique genetic makeup, specifically the pair of alleles they possess for a particular gene or genetic marker. For example, an individual can be homozygous (having two identical alleles) or heterozygous (having two different alleles) at a given locus.
Grandparentage Test
A DNA kinship test performed to determine if an individual is the biological grandparent of a child. This test is often used as an indirect way to determine parentage when the alleged parent is unavailable for testing.

H

Half-Sibling
An individual who shares only one biological parent with another person. On average, half-siblings share about 25% of their DNA.
Haplogroup
A major ancestral group defined by a series of specific genetic markers (SNPs) that are passed down together through generations. Y-DNA haplogroups trace a direct paternal lineage (father to son), while mtDNA haplogroups trace a direct maternal lineage (mother to all children).
Heterozygote
An individual who is heterozygous—meaning they carry two different alleles for a particular gene or genetic marker.
Heterozygous
A term describing the genetic state of having two different alleles for a specific gene or genetic marker, one inherited from each parent.
Homozygous
Possessing two identical alleles for a particular gene or genetic marker, with the same allele inherited from each parent.

I

Immigration & Family Visas
The process for bringing foreign relatives to the United States. If primary evidence of a biological relationship (like a birth certificate) is unavailable or deemed insufficient, U.S. Citizenship and Immigration Services (USCIS) may suggest DNA testing as a way to provide strong supporting evidence.
Immigration DNA Testing
DNA testing used to provide evidence of a claimed biological relationship (e.g., parent-child) to support immigration, visa, and citizenship applications. These tests must be legally admissible and follow strict collection and chain of custody protocols to be accepted by government bodies worldwide.
Inclusion
A DNA test result indicating that the tested individual cannot be excluded as the biological relative. This occurs when the individual’s DNA profile is consistent with the inheritance patterns observed in the child. The result is accompanied by a high statistical probability (e.g., a Probability of Paternity greater than 99.9999%).
Inheritance
The process by which genetic information (DNA) is passed from parents to their offspring.
ISO/IEC 17025
An international standard that outlines the general requirements for the competence of testing and calibration laboratories. Accreditation to ISO 17025 signifies a laboratory’s technical competence and ability to produce precise and accurate test data. Our laboratory is accredited to this international standard.

K

Kinship
The state of being biologically related; a family relationship. DNA kinship testing is performed to determine the likelihood that such a relationship exists between individuals.
Kinship Index (KI)
A statistical likelihood ratio calculated for a single genetic marker in a relationship test (such as a sibling or grandparent test). It represents the odds that the tested individuals share the alleles at that specific marker due to a family relationship, versus sharing them by random chance. The individual KIs are then combined to calculate the Combined Kinship Index (CKI).

L

Laboratory
A facility equipped for scientific experiments, research, or testing. In this context, a specialized facility that performs DNA analysis.
A DNA test with results that are admissible in U.S. courts and for federal agencies. A legal test requires a strict AABB-compliant chain-of-custody process and analysis by an AABB-accredited laboratory, ensuring the result is reliable for official use.
Likelihood Ratio (LR)
A statistic that compares the probability of observing the test results under one hypothesis (e.g., the tested individuals are related) versus a second hypothesis (e.g., they are unrelated). The Combined Paternity Index (CPI) and Combined Kinship Index (CKI) are types of likelihood ratios.
Locus (plural: Loci)
The specific physical location of a gene or DNA sequence on a chromosome. Think of it as a genetic “address.”

M

Match Probability
The probability that a person selected at random from the population would have the same DNA profile as the one being tested. Our relationship tests, using up to 27 markers, generate DNA profiles that are so rare that the probability of a random match is exceptionally low.
Maternity Test
A DNA test performed to determine if a woman is the biological mother of a child.
Microsatellite Repeats
See Short Tandem Repeat (STR).
Mismatch
An instance where an allele in a child’s DNA profile does not match the alleles from the alleged parent(s). While a single mismatch can sometimes occur due to a natural mutation, multiple mismatches (typically 3 or more) result in an exclusion, proving the tested individual is not the biological parent.
Mitochondria
Often called the “powerhouses” of the cell, mitochondria are structures within the cell’s cytoplasm responsible for generating energy. They are unique because they contain their own DNA, known as mitochondrial DNA (mtDNA). This type of DNA is passed down exclusively from a mother to her children and is used in specialized tests to trace direct maternal lineage over many generations.
Mitochondrial DNA (mtDNA)
DNA located in the mitochondria of cells, passed down from a mother to all of her children (both male and female) with very little change. An mtDNA test can be used to determine if two or more individuals share a common maternal line.
Monozygotic Twins (Identical Twins)
Twins that originate from a single fertilized egg that splits into two embryos. They share virtually identical DNA profiles and are always the same sex. A Zygosity Test can confirm if twins are monozygotic.
Mouth Swab
See Buccal Swab.
Mutation
A change in the DNA sequence. In relationship testing, this refers to a rare, spontaneous change that can occur between a parent and child, appearing as a genetic inconsistency or mismatch at a single marker. Our laboratory analyzes up to 27 markers, so one mutation does not prevent a conclusive result, as we use statistical calculations to confirm the relationship. In a broader context (e.g., health testing), a mutation or “variant” is a change in a gene that can alter its function. Such changes can be harmless, disease-causing, or have unknown effects.

N

Non-Carrier
In medical genetics, a non-carrier is an individual who has been tested for a specific genetic variant associated with an inherited disease and has not been found to possess that variant. This term is related to health and disease screening and is not used in the context of DNA relationship testing such as paternity or kinship tests.
See At-Home Test.
Nucleotide
The basic structural unit of a DNA strand. A nucleotide consists of three parts: a sugar molecule, a phosphate group, and one of the four chemical bases (A, T, C, or G).

O

Order of Filiation
A formal court order that legally establishes a person as a child’s parent. When paternity is in question, a legal DNA test provides powerful evidence for obtaining this declaration, which can then be used as a basis for custody or support orders.

P

Parentage
The biological and/or legal relationship between a parent and a child.
Paternal
Relating to, characteristic of, or inherited from the father.
Paternity
The state of being the biological father of a child.
Paternity Index (PI)
A statistical likelihood ratio calculated for each genetic marker in a paternity test. The PI compares the odds that the alleged father passed the required allele to the child versus the odds that a random, unrelated man could have passed the allele. The individual PIs are multiplied together to create the Combined Paternity Index (CPI).
Paternity Test
A DNA test performed to determine whether a man is the biological father of a child. The DNA Paternity Test works by comparing the child’s DNA profile to the alleged father’s profile. Because a child inherits half of their DNA from their biological father, the test can confirm or exclude the paternal relationship with exceptional accuracy. Using up to 27 genetic markers, our test establishes paternity with a probability greater than 99.9999% for an inclusion, or rules it out with 100% certainty for an exclusion.
Peace of Mind Test
See At-Home Test.
Phenotype
The observable physical or biochemical characteristics of an individual, such as eye color, hair color, and blood type, as determined by their genotype and environmental influences.
Polymerase Chain Reaction (PCR)
The core laboratory technology used to perform DNA testing. PCR is a method for making millions of copies of specific regions of a DNA sample. This amplification process allows our scientists to generate a clear DNA profile even from the small number of cells collected with a buccal swab.
Power of Exclusion (PE)
A statistical measure of a genetic marker’s ability to exclude a falsely accused individual. By combining the Power of Exclusion across all 27 markers, our tests have a 100% power to exclude someone who is not the true biological parent in paternity and maternity tests.
Presumed Father
A man who is legally recognized as a child’s father under state law, often because he was married to the mother at the time of birth. This legal presumption can be scientifically confirmed or challenged in court with the evidence of a legal DNA test.
Probability of Paternity (POP)
The ultimate statistical expression, usually given as a percentage, of the likelihood that the tested man is the biological father of the child. For an inclusion, this is typically greater than 99.9999%. For an exclusion, it is 0%.
Putative Father
See Alleged Father.

R

Random Man (in Paternity Calculations)
A hypothetical, unrelated man from the same ethnic background as the alleged father. This concept is used as a baseline reference point in calculating the Paternity Index to determine the significance of a genetic match.
Reference Population
A database of genetic information from a group of unrelated individuals of a specific ethnic background. This data is used to determine the frequency of alleles in the general population, which is essential for calculating the statistical strength of a match (e.g., the Paternity Index).

S

Sample / Specimen
Biological material (e.g., cheek cells from a buccal swab, blood, or other tissues) collected from an individual for DNA analysis.
Sample Collector
An impartial third party, often a medical professional or trained technician, responsible for verifying participant identities and collecting DNA samples for a legal test. The use of an independent collector is a key part of the chain-of-custody process, ensuring results are unbiased and admissible in legal proceedings.
SCC (Standards Council of Canada)
Canada’s national accreditation body. SCC accreditation to ISO 17025 demonstrates a laboratory’s competence to international standards, ensuring quality and reliability for both Canadian and global clients. Our laboratory is accredited by the SCC.
Sex Chromosomes
The chromosomes that determine an individual’s biological sex. Females typically have two X chromosomes (XX), and males have one X and one Y chromosome (XY).
Short Tandem Repeat (STR)
Regions of DNA where short sequences of base pairs are repeated consecutively. The number of repeats at specific STR loci varies highly among individuals, making them very effective genetic markers for identification and relationship testing.
Sibling Test
A DNA kinship test performed to determine the likelihood that two or more individuals are full siblings (share both biological parents), half-siblings (share one biological parent), or are unrelated.
SNP (Single Nucleotide Polymorphism)
A variation in a single nucleotide base (A, T, C, or G) in the DNA sequence. While STR markers are used for standard relationship testing, SNPs are often analyzed in specialized tests, such as some NIPP tests and ancestry tracing.
Split Kit
A service where components of a DNA collection kit are sent to individuals living at different addresses (including different cities, provinces, states, or countries) to facilitate sample collection for a single test.
Swab
See Buccal Swab.

T

Turnaround Time
The time from when our laboratory receives all your DNA samples to when your results are ready.
Twin Zygosity Test
A DNA test performed to determine whether twins (or other multiple-birth individuals) are identical (monozygotic) or fraternal (dizygotic).

U

USCIS (U.S. Citizenship and Immigration Services)
The federal agency that oversees lawful immigration to the United States. USCIS manages applications for family-based visas and will accept DNA results from an AABB-accredited laboratory as evidence of a claimed biological relationship.

V

Variant
See Genetic Variant.
Variations
See Genetic Variant.

W

Wildtype
The version of a gene (or allele) that is most commonly found in a natural population. It is considered the “normal” or standard sequence against which mutations are compared.

X

X Chromosome
One of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). Every individual inherits one X chromosome from their mother.

Y

Y Chromosome
One of the two sex-determining chromosomes in humans. The Y chromosome is present only in males (XY) and is passed down directly from father to son. See also Y-DNA.
Y-DNA
DNA found on the Y chromosome, which is passed exclusively from father to son. Testing Y-DNA can confirm if two or more males share a direct paternal lineage.

Z

Zygosity
The genetic condition of a zygote. In the context of twins and other multiple births, zygosity describes whether they are identical (monozygotic, from one zygote) or fraternal (dizygotic, from two separate zygotes).
Zygote
The initial cell formed when a sperm fertilizes an egg. It contains the complete set of chromosomes (half from each parent) and develops into an embryo.

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