Cytogenetics

Genetic testing

Laboratory professionals generate data to assist in detecting cancer, bacterial and viral infections, and inherited chromosomal disorders.

Pathologists

Specialists who work behind-the-scenes to provide valuable data for disease detection, treatment evaluation, and maintaining health.

Autosomes

22 pairs of chromosomes carrying genetic information, excluding the sex chromosomes.

Karyotyping

Studying chromosomes at metaphase to analyze number and morphology.

Prenatal samples

Samples like amniotic fluid used to detect chromosome abnormalities such as Down's syndrome.

Colcemid

A substance used to disrupt spindle fibers during cell division for isolating chromosomes.

Hypotonic solution

A solution used to swell cells for preserving chromosomes in a swollen state.

Punnett square

A diagram used to predict the possible genotypes of offspring.

Telomere

The end of a chromosome.

G-banding

A staining technique used for karyotyping by creating characteristic light and dark bands on chromosomes.

NOR silver stain

A staining method to visualize chromosomal locations of rDNA for gene expression and tumor diagnosis.

FISH

A technique to attach molecular probes with a fluorescent signal to unravel the DNA of chromosomes.

Centromere

The part of a chromosome that separates the long and short arms.

Trisomy 21

A genetic disorder with an extra chromosome 21, causing Down syndrome.

Turner Syndrome

A condition where a female is wholly or partially missing an X chromosome.

Klinefelter Syndrome

A condition where a male is born with an extra X chromosome.

Deletion

A chromosomal abnormality involving the loss of a part of the chromosome.

Duplication

A chromosomal abnormality involving the repetition of a segment of the chromosome.

Inversion

A chromosomal abnormality involving the reversal of the normal order of a segment of the chromosome.

Substitution

A chromosomal abnormality involving the replacement of one segment of a chromosome with another segment.

Translocation

A chromosomal abnormality involving the transfer of a segment from one chromosome to another.

Angelman Syndrome

A genetic disorder characterized by developmental delays, speech problems, and a happy, excitable demeanor.

Williams Syndrome

A genetic condition characterized by developmental delays, heart and blood vessel problems, and a highly social, outgoing personality.

BCR-ABL1 Translocation

A chromosomal abnormality where pieces of BCR and ABL genes break off and switch places, indicative of chronic myeloid leukemia (CML).

Microdeletion

A chromosomal abnormality involving the deletion of a small piece of a chromosome.

Philadelphia Chromosome

A specific genetic change in which part of chromosome 22 switches places with part of chromosome 9, indicative of chronic myeloid leukemia (CML).

Cytogenetic Imbalances

Abnormalities in the number or structure of chromosomes, detectable using microarray technology.

Microarray

A genetic testing tool used to detect small cytogenetic imbalances in an individual's DNA.

Karyotype

A visual arrangement of the complete set of chromosomes of an individual, used to identify chromosomal abnormalities.

Cytogenetics Lab Techniques

A series of activities including culturing, inducing cell division, harvesting, analyzing, evaluating, and utilizing molecular and fluorescent technologies to identify chromosomal abnormalities.

Interpretation of Cytogenetic Results

The process of reviewing cytogenetic and molecular cytogenetic research results by a specialist before releasing them to clinicians.

Cytogenetics

The study of the structure and function of chromosomes, including the detection of chromosomal abnormalities.

Interactive Karyotyping

An interactive tool used to analyze and interpret karyotypes for educational or diagnostic purposes.