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 (Association for the Advancement of Blood & Biotherapies)
An international organization that sets standards and provides accreditation for DNA relationship testing laboratories, including paternity testing. AABB accreditation is a recognized benchmark for quality and accuracy, often considered for legal tests in Canada and internationally.
Accreditation
Formal recognition by an authoritative body (e.g., SCC, AABB, ISO) that a laboratory is competent to carry out specific tasks, such as DNA paternity testing, by meeting established quality and operational standards. For Canadian legal and immigration purposes, SCC accreditation for specific tests is particularly important.
Admissible Evidence
Evidence that is deemed appropriate and can be lawfully introduced in a court of law. For DNA paternity test results to be admissible in Canadian courts, they typically must follow strict chain-of-custody procedures and be performed by an accredited laboratory.
Affidavit
A written statement confirmed by oath or affirmation before an authorized person (e.g., a notary public or commissioner of oaths). Legally admissible DNA test results are often accompanied by a sworn affidavit from a laboratory professional.
Alleged Father (or Putative 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.
Allele
One of several alternative forms of a specific DNA sequence (gene or marker) at a particular location (locus) on a chromosome. Individuals inherit one allele from each parent for every locus. The comparison of alleles forms the basis of DNA paternity testing.
Amniocentesis
An invasive prenatal diagnostic procedure in which a small amount of amniotic fluid, containing fetal cells, is withdrawn from the uterus. These fetal cells can be used for DNA testing to determine paternity before birth. This procedure is typically performed during the second trimester of pregnancy and carries a small risk of complications. It is distinct from non-invasive prenatal methods.
At-Home Paternity Test (or Peace of Mind Test, Non-Legal Paternity Test)
A DNA test conducted for personal information and peace of mind only, where participants typically collect their own DNA samples (e.g., via buccal swabs using a DNA Collection Kit) in a private setting. While utilizing the same laboratory analysis, these tests generally lack the strict chain-of-custody documentation required for legal admissibility in Canadian courts.
Autosomal DNA
DNA from the 22 pairs of non-sex chromosomes (autosomes). Humans inherit autosomal DNA from both parents. Tests using autosomal DNA are standard for paternity, maternity, and other close relationship testing.
Avuncular Test (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. This test is often used when the alleged father (the potential aunt or uncle's sibling) is unavailable for direct paternity testing.

B

Biological Father
The man whose sperm fertilized the egg, resulting in the conception of the child. He is genetically the father of the child.
Buccal Swab (or Cheek 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. These are typically included in a DNA Collection Kit.

C

CAP (College of American Pathologists)
An organization that accredits laboratories. While US-based, some Canadian labs may also hold CAP accreditation as an additional mark of quality assurance.
Chain of Custody
A meticulous, documented protocol that tracks the collection (by an impartial third-party collector for legal tests), identification, handling, transfer, and storage of DNA samples from the moment of collection to the reporting of results. A strict chain of custody is crucial for a DNA test to be considered legally admissible in Canadian courts.
Child Support
Financial contributions legally required from a parent for the upbringing of their child. Establishing paternity is often a necessary first step before child support obligations can be determined and enforced under Canadian family law.
Chorionic Villus Sampling (CVS)
An invasive prenatal diagnostic procedure where a small sample of chorionic villi (tissue from the placenta) is collected. This tissue contains fetal DNA and can be used for paternity testing before birth. CVS is typically performed earlier in pregnancy than amniocentesis and also carries a small risk of complications.
Chromosome
Thread-like structures located inside the nucleus of animal and plant 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)
US federal regulatory standards for clinical laboratory testing performed on humans in the United States. Some Canadian laboratories may seek CLIA certification as an additional quality indicator, particularly if serving clients who may require results recognized by US entities.
Combined Paternity Index (CPI)
A statistical calculation derived in DNA paternity testing. It is the product of the individual Paternity Indices (PIs) obtained for each genetic marker analyzed. The CPI represents the overall likelihood that the tested man is the biological father compared to an untested, unrelated man of the same ethnic background.
Confirmatory Testing (or Duplicate Testing)
The practice of independently processing DNA samples a second time in the laboratory to verify the initial results and ensure accuracy. Many high-quality labs perform such checks as part of their standard procedure.
Voluntary agreement and permission given by an individual (or their legal guardian, if a minor or incapable) to undergo DNA sample collection and testing. Informed consent is a critical ethical and legal requirement.

D

Declaration of Parentage
A legal order or declaration by a Canadian court that formally establishes a person as a legal parent of a child. This can be sought in various circumstances, including when paternity is in dispute, and may be based on DNA evidence or other legal presumptions. Provincial and territorial family laws in Canada govern this process.
Deoxyribonucleic Acid (DNA)
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 to individuals or sample collectors for gathering DNA samples. For at-home tests, this typically includes buccal swabs, collection envelopes, instructions, and consent forms. Legal test kits are used by approved collectors.
DNA Profile (or Genetic Fingerprint)
The unique pattern of specific DNA fragments (alleles at various loci) obtained from an individual through DNA analysis. In paternity testing, the child's DNA profile is compared with those of the alleged father and, ideally, the mother.
DNA Report (or Genetic Report)
The official document issued by the laboratory that presents the results of the DNA test, including the DNA profiles of the tested individuals, statistical analysis (such as Probability of Paternity and Combined Paternity Index), and an interpretation of the findings (inclusion or exclusion).
DNA Test / DNA Testing
A laboratory analysis of Deoxyribonucleic Acid (DNA) to identify specific genetic characteristics. In the context of paternity, it's used to compare the DNA profiles of a child, an alleged father, and often the mother, to determine biological parentage.
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.

E

Exclusion (in Paternity Testing)
A DNA test result indicating that the alleged father is not the biological father of the child. This conclusion is reached when there are multiple (typically 3 or more) mismatches in the genetic markers between the alleged father and the child, demonstrating he could not have contributed the paternal DNA. The Probability of Paternity in such cases is 0%.

F

Family Law Act(s)
Provincial and territorial statutes in Canada that govern family law matters, including the determination of parentage, custody (decision-making responsibility), access (parenting time), and child support. These acts often outline presumptions of paternity and the processes for establishing legal parentage.

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 (or Locus)
A specific, identifiable DNA sequence found at a particular location (locus) on a chromosome. These markers, often Short Tandem Repeats (STRs), vary between individuals and are used in DNA testing to compare individuals and determine biological relationships.
Genetic Report
See DNA Report.
Genotype
The specific combination of alleles an individual possesses at a particular genetic locus or across multiple loci.
Grandparentage Test
A DNA kinship test performed to determine if an individual is the biological grandparent of a child. This is often used when the alleged parent is unavailable for testing.

I

Immigration DNA Testing
DNA testing used to provide evidence of a claimed biological relationship (e.g., parent-child, sibling) to support Canadian immigration and citizenship applications. Immigration, Refugees and Citizenship Canada (IRCC) generally requires these tests to be performed by laboratories specifically accredited by the Standards Council of Canada (SCC) for this purpose, and following strict collection and chain of custody protocols.
Impartial Third-Party Collector
An individual, often a medical professional or trained collector, who has no personal or financial interest in the outcome of a DNA test and is responsible for verifying the identity of participants and properly collecting and documenting samples for legal tests.
Inclusion (in Paternity Testing)
A DNA test result indicating that the tested man cannot be excluded as the biological father of the child. This occurs when the man's DNA profile is consistent with having contributed the paternal genetic markers found in the child. The result is typically accompanied by a high Probability of Paternity (e.g., 99.9% or greater).
Inheritance (Genetic)
The process by which genetic information (DNA) is passed from parents to their offspring.
IRCC (Immigration, Refugees and Citizenship Canada)
The Canadian federal department responsible for immigration, refugee, and citizenship matters. IRCC may request DNA testing to establish familial relationships for applications and requires such tests to meet specific standards, often involving SCC-accredited labs.
ISO 17025
An international standard that outlines the general requirements for the competence of testing and calibration laboratories. Accreditation to ISO 17025 by bodies like the Standards Council of Canada (SCC) signifies a laboratory's technical competence and ability to produce precise and accurate test data.

K

Kinship Index
A statistical value calculated in DNA relationship tests (such as avuncular or grandparentage tests) that reflects the likelihood of the claimed biological relationship existing between the tested individuals, compared to them being unrelated.
Kinship Test
A DNA test performed to establish or verify a biological relationship between individuals other than direct parent-child (e.g., siblings, aunts/uncles and nieces/nephews, grandparents and grandchildren).

L

Laboratory
A facility equipped for scientific experiments, research, or testing. In this context, a specialized laboratory that performs DNA analysis.
A DNA paternity test conducted under strict chain-of-custody procedures, including sample collection by an impartial third party and often involving specific witnessing fees. Its results are suitable for submission as evidence in Canadian legal proceedings, such as those concerning child support, decision-making responsibility (custody), or inheritance.
Likelihood Ratio
A general statistical term. In paternity testing, the Paternity Index (PI) and Combined Paternity Index (CPI) are forms of likelihood ratios, comparing the probability of the observed DNA evidence under different relationship hypotheses.
Locus (Plural: Loci)
The specific physical location of a gene or genetic marker on a chromosome.

M

Marker (Genetic)
See Genetic Marker.
Maternity Test
A DNA test performed to determine if a woman is the biological mother of a child.
Mitochondrial DNA (mtDNA)
DNA found in the mitochondria of cells. It is inherited exclusively from the biological mother, making it useful for tracing direct maternal lineage.
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.
Mother (Biological)
The woman who contributed the egg that was fertilized to conceive the child and, in most cases, carried the pregnancy.
Motherless Paternity Test
A paternity test performed without a DNA sample from the child's biological mother. While still highly accurate, including the mother's sample can sometimes increase the conclusiveness of the results by helping to definitively identify the paternal alleles.
Mutation
A rare, spontaneous change in the DNA sequence that occurs during DNA replication. If a mutation occurs at one of the tested genetic markers between a parent and child, it can sometimes complicate the interpretation of paternity test results, though laboratories have statistical methods to account for this possibility.

N

See At-Home Paternity Test.

P

Parentage
The legal and/or biological relationship between a parent and a child. Legal parentage in Canada grants rights and imposes responsibilities.
Parenting Time
A term used in Canadian family law (following amendments to the federal Divorce Act, and often mirrored in provincial/territorial legislation) referring to the time a child spends in the care of one of their parents (or other authorized individuals). It replaces the term "access" in many contexts. Establishing paternity can be crucial for securing orders related to parenting time.
Participant
An individual taking part in a DNA test, from whom a DNA sample is collected.
Paternal
Relating to or inherited from the father.
Paternity
The state or fact of being the biological father of a child.
Paternity Index (PI)
A statistical value calculated for each genetic marker (locus) tested. It represents how many times more likely it is that the alleged father transmitted the required paternal allele to the child than a randomly selected, unrelated man from the same ethnic population.
Peace of Mind Test
See At-Home Paternity Test.
PIPEDA (Personal Information Protection and Electronic Documents Act)
Canada's federal private sector privacy law governing how organizations collect, use, and disclose personal information in the course of commercial activities. Reputable DNA testing companies in Canada adhere to PIPEDA to protect client confidentiality.
Polymerase Chain Reaction (PCR)
A laboratory technique used to amplify (make many copies of) specific DNA sequences. PCR enables the analysis of very small amounts of DNA and is a core technology in modern DNA testing.
Presumed Father/Parent (Presumption of Paternity)
A legal concept in Canadian family law where a man is assumed to be the father of a child under certain circumstances (e.g., if he was married to the mother at the time of the child's birth or recognized paternity). This presumption can generally be rebutted with contrary evidence, such as a DNA test.
Probability of Paternity (POP)
The ultimate statistical expression, usually given as a percentage, of the likelihood that the tested (alleged) father is the biological father of the child, based on the DNA evidence (Combined Paternity Index) and usually a prior probability (often assumed at 50%). For an inclusion, this is typically 99.9% or higher. 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, used as a reference point in calculating the Paternity Index.
Results (Interpretation of)
The outcome of the DNA test, typically indicating either an "inclusion" (the man is likely the father) or "exclusion" (the man is not the father), supported by statistical values like the Probability of Paternity and Combined Paternity Index, and presented in a DNA Report.

S

Sample / Specimen
Biological material (e.g., cheek cells from a buccal swab, blood, or other tissues) collected from an individual for DNA analysis.
SCC (Standards Council of Canada)
A Canadian federal Crown corporation that accredits laboratories to national and international standards, including ISO 17025 for DNA testing labs. SCC accreditation for specific DNA relationship tests is often required for results to be accepted by Canadian government bodies like IRCC for immigration purposes.
Sex Chromosomes (X & Y)
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 (typically 2-6 base pairs long) 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. Most modern paternity tests analyze a panel of STR markers.
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.
Split Kit / Split Sample Collection
A service offered by DNA testing companies where components of a DNA collection kit can be sent to individuals living at different addresses (e.g., in different cities or even countries) to facilitate sample collection for a single test.
Swab
See Buccal Swab.

T

Tamper-Evident Seal/Packaging
Special seals or packaging designed to show visible signs if they have been opened or interfered with. Used in legal DNA testing kits to ensure the integrity of the collected samples during transit to the laboratory.
Turnaround Time
The duration it takes from the time the laboratory receives the DNA samples to when the test results are reported to the client. This can vary depending on the test type and laboratory workload.

Y

Y-Chromosome Test (Y-STR Test)
A DNA test that analyzes STR markers found only on the Y chromosome. Since the Y chromosome is passed directly from father to son largely unchanged, Y-STR testing can determine if males share a common paternal lineage.

Z

Zygosity Test (Twin Zygosity Test)
A DNA test performed to determine whether twins (or other multiple-birth individuals) are identical (monozygotic, from one zygote) or fraternal (dizygotic, from two 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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