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Understanding DNA Terms

Explore Our User-Friendly Glossary of DNA Terms

We want to help you demystify complex genetic concepts with this glossary. These are the terms you are most likely to find when learning about DNA testing.

A
AABB
(formerly known as American Association of Blood Banks) Accrediting organization for paternity testing.

Accreditation
The recognition by an accrediting organization that the company’s services consistently conform with the standards set by the accrediting organization.

Admissible
A document or expert testimony is considered to be “admissible” when it is accepted as evidence in a judicial matter.

Affidavit
A sworn statement in writing made especially under oath or on affirmation before an authorized magistrate or officer.

Alleged Father
A man who may be the biological father of a child.

Allele
Any of the variations of a gene that may occur at a given locus.

Antemortem
Preceding death.

At-home Paternity DNA test
A test where the biological specimens are collected in a non-clinical setting without the usual chain of custody procedures. Results from an at-home collection are not intended for use in legal matters. These tests are not governed by accrediting organizations.

Autopsy sample
An autopsy sample is one which is collected by a coroner or medical examiner during the examination of a body after death. Such samples usually consist of a blood sample.

Autosomal DNA
Autosomal DNA is the DNA derived from all of the chromosomes (22 pairs in total) except the sex chromosomes (X & Y). A routine STR test involves the examination of a small percentage of the total autosomal DNA. The autosomal DNA examined in a DNA paternity test is non-coding, meaning that the DNA tested is not responsible for the generation of any physical characteristics of the person.

B
Biological Father
Sometimes called Birth Father or the Natural Father. The Biological Father normally contributes 50% of his DNA to the child.

Buccal Swab
This type of sample is collected using cotton-tipped applicators that are rubbed inside a person’s mouth on the inner lining of the cheek. The samples which are collected are cheek cell samples, not saliva samples. Also known as a cheek swab.

C
Chain of Custody
This term refers to the paper trail showing the collection, possession, control, transfer, analysis and disposition of physical evidence. For any Legal DNA case, the Chain of Custody of the sample is of utmost importance. Therefore Journey Genetic Testing has developed strict procedures and systems to ensure that the procedures have been followed.

Chain of Custody involves procedures that apply to the following steps of a DNA test:

  • Identification of the tested party
  • Obtaining Consent
  • Collection of specimens from the tested party
  • Packaging of the specimens
  • Shipment of the specimens
  • Receipt of the specimens by the DNA laboratory
  • Testing of specimens within the DNA laboratory
  • Storage of the specimens
  • Cheek Swab sample

Child Support
Child support is a court-ordered payment by one parent to the custodial parent of a minor child after divorce or separation of the parents.

Chromosome
Chromosomes are long pieces of DNA present in the nucleus of cells of living beings. A human has 46 chromosomes in total with 23 from each parent.

Combined Paternity Index
The Combined Paternity Index is the product of individual paternity indices at each genetic locus tested in a paternity test. The Combined Paternity Index compares the likelihood that the tested mother and alleged father produced the child versus the likelihood that the mother and a man selected at random from the population produced the child. It is a measure of the weight of the scientific evidence obtained from the test.

Court-Ready Paternity test
Commonly referred to as legal test.

Custodial Parent
Parent who has custody of the child.

Custody
Custody is a legal term used, most often in a divorce or separation, to describe who will have legal control and responsibility for a minor child. Legal custody may be granted to a single individual or to both parents (called joint or shared custody).

D
Decedent
A deceased person.

Deoxyribonucleic Acid / DNA
A complex naturally occurring organic chemical that is found in all cells. This compound is responsible for coding the genetic information that is passed on to offspring. Its acronym is “DNA.”

Dizygotic twins
Twins that are from two separately fertilized eggs. Also called Fraternal twins

E
Exclusion
Is an interpretation of the test results that the tested relationship does not exist. For example, the tested man is not the biological father of the child.

F
First-degree relative
A biological sibling, parent or child of an individual.

Fraternal twins
Fraternal twins, also called dizygotic twins, occur when two separate eggs are fertizlied. Fraternal twins may be of the same sex or of two different sexes. Although unusual, it is possible that fraternal twins could have different fathers.

Frequency Tables
These are tables showing the distribution of different alleles for the same gene. These tables are established for each genetic marker tested showing the frequency of each allele. They are established for each race and the frequencies are then used to calculate paternity indices.

G
Gene
A gene is the fundamental unit of heredity. It can be a coding gene (one that determines a specific function or physical characteristic) or it can be non-coding. Each gene is located at a specific position (called locus) on a particular chromosome and variations of the same gene are called alleles.

I
Inclusion
In the context of a paternity test, an alleged father is “included” when he cannot be excluded as the biological father of the child. Journey Genetic Testing’s paternity results provide a specific probability of inclusion.

K
Kinship
Kinship is a connection by blood.

L
Legal DNA test
A “legal” test is also called a Chain of Custody or court-ready test. It is completed using DNA samples that have been collected by an unbiased third party with a documented Chain of Custody.

Loci
The plural form of locus.

Locus
The singular term for a specific location on a chromosome.

M
Maternal
Related through one’s mother.

Maternity Test
A test (usually DNA) to determine whether a woman is or is not the biological mother of a child.

Matrilineal
Relating to descent through the maternal line.

Monozygotic twins
Also called identical twins, monozygotic twins develop from a single fertilized egg that divides after it is fertilized into two separate embryos. Identical twins have DNA that is exactly the same. They will be the same sex and will look like each other.

N
Non-Custodial Parent
The parent who does not have custody of the child in question.

Non-Standard sample
A non-standard sample is a biological sample used for DNA testing that is not a cheek swab or blood sample.

P
Parentage Test
A parentage test is a biological test performed to determine whether a person is the biological parent of a child.

Paternal
Related through one’s father.

Paternity Index
For an individual locus, this value is a likelihood ratio comparing the chance the tested mother and alleged father produced the child to the chance the mother and a man selected at random from the population produced the child.

Paternity Test
A biological test performed to determine the probability that a certain man is the biological father of a child.

Pathology sample
A biological sample taken from a person’s body. Pathology samples are often tissue samples.

Patrilineal
Relating to descent through the paternal line.

Postmortem
Postmortem means after death. It can also refer to the examination of a deceased individual to determine the cause of death and will often lead to the collection of several biological samples from the deceased.

Power of Exclusion
The ability of a genetic marker system to detect a man who has been falsely accused of paternity.

Prenatal
In the context of paternity testing, a prenatal test is one that is conducted before the birth of a child, using an amniotic fluid sample or piece of the placenta (CVS), from the fetus.

Prior Probability (of Paternity)
The prior probability can be from 0 to 1. This is a measure of any evidence other than the test. For example, the social evidence surrounding conception. Laboratories routinely use a prior probability of 0.5, which is considered neutral. This means that the weight of the non-test evidence in favor of paternity is equal to the evidence against paternity.

R
Random Man
In the context of paternity testing, a random man is a theoretical man, unrelated to the alleged father, to whom the DNA of the alleged father is compared.

S
Second-degree relative
A second-degree relative is a grandparent, grandchild, aunt, uncle, niece, or nephew.

Self Collection
A cheek swab sample that is collected by the party to be tested. It is usually obtained in a person’s home.

Sibling Test
A test to determine if two or more individuals are biologically related as either full or half siblings.

STR
STR is an acronym for Short Tandem Repeat. STRs are short sections of DNA that contain a nucleotide sequence which is repeated a number of times in certain sites on specific chromosomes. The number of repeats differs from individual to individual within the population. These sections of DNA are examined in DNA identity testing.

Surrogate mother
A surrogate mother agrees to become pregnant for the purpose of giving birth to a child for others to raise. She can be the child’s genetic mother or could have been implanted with an egg from another woman and man.

X
X-chromosome
The sex chromosome associated with female characteristics in mammals. It occurs as a pair in human females and singly in human males.

Y
Y-chromosome
The sex chromosome that is contributed by a father to his son. Y-chromosomes are only found in males.