Wallach's Interpretation of Diagnostic Tests: Pathways to Arriving at a Clinical Diagnosis (888 page)

   
Chromosome analysis:
Microscopic visual inspection of banded mitotic chromosomes that assess the entire genome with the ability to detect chromosome aberrations larger than approximately 5–10 megabases.

   
Karyotyping:
An ordered pairing of chromosomes that aids in detecting chromosome anomalies.

   Use

   
FISH

   Assessment of a specific region of the genome; allows detection of abnormalities that are too small to be visualized by conventional cytogenetics (e.g., microdeletions, microduplications)

   Also may be performed on interphase (nondividing) cells, eliminating the necessity of cell culture and thereby allowing rapid turnaround times, and assessment of specimens that contain few or no dividing cells

   
Chromosome analysis:
used to identify abnormalities of chromosome number and structure that may be causal for mental retardation, congenital anomalies, pregnancy loss, infertility, and cancer

   
Karyotyping

   A tool in chromosome analysis.

   Sometimes used (incorrectly) to mean chromosome analysis; a karyotype is not a stand-alone test.

   Interpretation

   
FISH

   
Normal
(two intact copies of sequence in a diploid cell)