This CytoTest FISH probe set is designed to simultaneously determine the copy number of human chromosomes 13, 18, 21, X and Y, and to detect copy number aberrations in these chromosomes, in metaphase and interphase blood and tissue cells. The panel contains five different probes:

Panel A

CCP18 is derived from chromosome 18 specific centromeric (18p11.1-q11.1) alpha satellite DNA (D18Z1).
CCPX is derived from X-chromosome specific alpha satellite DNA (Xp11.1-q11.1, DXZ1).
CCPY is derived from Y chromosome specific centromeric (Yp11.1-q11.1) alpha satellite DNA (DYZ3).
Note: CCPY probe derived from chromosome Y long arm satellite DNA (DYZ1) can also be provided if preferred.

Panel B

CCP13 is a probe spanning the RB1 gene on 13q14 and adjacent sequences.
CCP21 is a probe covering the DSCR8 gene locus located on chromosome band 21q22.2.

The probe set is optimized to aid in the detection of copy number aberrations involving the five chromosomes. Trisomies of chromosomes 13, 18 and 21 as well as sex chromosome aneuploidies are the by far most common prenatal chromosomal aberrations. While the panel can also reveal other copy number defects including mono-, tetra- and polyploidies and other anomalies, a diverse range of specific abnormalities may not be detected by this panel such as localized inversions or balanced intrachromosomal translocations, centromeric polymorphisms, some microdeletions or microduplications, and other defect types. 

For the detailed analysis of complex structural rearrangements, additional probes must be used, in addition to routine chromosome analysis and anatomical, biochemical and clinical information.

Fluorescence in situ hybridization (FISH) is a powerful technique developed to detect presence or absence, location, integrity and amount of genomic sequences in tissue samples or cells.^1-3

FISH is the most commonly applied method to determine chromosome copy number in cells, tissues and embryos and for the initial detection of common prenatal or preimplantation trisomies.^4-9 Chromosome copy numbers can also be measured by other methods such as QF-PCR or other PCR-based techniques^10-14 or with microarray-based approaches^15-17, with each method having its advantages and caveats.¹⁸ In recent years, sequencing-based protocols have gained increasing attention, but predictive values and clinical reliability are still under evaluation.^19-21 Moreover, sample heterogeneity, allele dropout, embryonic mosaicism and other processes may render copy number testing by sequencing alone challenging. Due to its advanced development, sensitivity, speed, versatility and applicability to a wide range of sample types, FISH is the accepted standard assay for the initial determination of chromosome copy numbers.^22-25 

References  

1) O’Connor C. Nature Education 1:1 (2008).
2) Tsuchiya KD. Clin Lab Med. 31(4):525-42 (2011).
3) Ried T, et al. Hum Mol Genet. 7(10):1619-26 (1998).
4) Schwartz S. Am J Hum Genet 52:851-853 (1993).
5) Klinger K, et al. Am J Hum Genet 51(1):55-65 (1992).
6) Evans MI,et al. Am J Obstet Gynecol 171(4):1055-1057 (1994).
7) Jalal SM, et al. Mayo Clinic Proc 73(2):132-137 (1998).
8) Lewin P, et al. Prenat Diagn 20(1):1-6 (2000).
9) Tepperberg J, et al. Prenat Diagn 21(4):293-301 (2001).
10) Schmidt W, et al. Mol Human Reprod 6(9):855-860 (2000).
11) Nicolini U, Human Reprod Update 10(6):541-548 (2004).
12) Cirigliano V, et al. Mol Human Reprod 10(11):839-846 (2004).
13) Moftah R, et al. Adv Reprod Sci 3:21-28 (2013).
14) Fan HC, et al. Am J Obstet Gynecol 200:543.e1-543.e7 (2009).
15) Lapierre JM, et al. Prenat Diagn 20(2):123-131 (2000).
16) Rickman L, et al. J Med Genet 43:353-361 (2006).
17) Sahoo T, et al. Genetics in Medicine 8(11):719-727 (2006).
18) Langlois S, Duncan A, J Obstet Gynecol Can 33(9):955-60 (2011).
19) Zimmermann B, Prenat Diagn 32(13):1233-1241 (2012).
20) Bianchi DW, et al. N Engl J Med 370:799-808 (2014).
21) Norton M, et al. Am JObstet Gynec 210(1):S3-S4 (2014).
22) ACMG/ASHG. Genetics in Medicine 2(6):356 – 361 (2000).
23) Diez-Martin JL, et al. Haematologica 83:408-415 (1998).
24) Fauzdar A, Indian J Hum Genet 19(1):32-43 (2013).
25) Stumm M, et al. Cytogenet Genome Res 114(3-4):296-301 (2006).