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Product summary

  • Chromosomes
    22
  • Labels    
  • Regulatory status In vitro diagnostic. This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.
  • Disease focus Constitutional
Cytocell Catalogue Probe Packaging With Amber Tube
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Probe design Overview Product documentation Customer feedback

Probe design

22q11.2 (TUPLE1) / 22q13.3 (N85A3)

FISH chromosome map showing a probe targeting regions associated with DiGeorge, VCFS and 22q13.3 deletion syndromes. Expand image.

Overview

Probe specification

  • TUPLE1, 22q11.2, Red
  • N85A3, 22q13.3, Green

The TUPLE1 probe is 113kb, labelled in red, and covers most of the TUPLE1 (HIRA) gene. The N85A3 (45kb) probe, labelled in green, is located within 22q13.3 and covers the telomeric end of the SHANK3 gene, allowing for identification of the most distal 22q13.3 deletions. The two unique sequences provide control probes for each other and allow identification of chromosome 22.

 

Probe information

DiGeorge Syndrome

DiGeorge syndrome1, and a variety of congenital malformation syndromes including Velocardiofacial syndrome (VCFS)2, share the deletion of chromosome 22 at 22q11.22,3,4,5.These chromosome 22 deletions are collectively coined CATCH22, a mnemonic that covers the clinical findings of Cardiac abnormality, Abnormal facies, Thymic aplasia, Cleft palate and Hypocalaemia/Hyperthyroidism due to a chromosome 22 deletion.

In addition, around 29% of nonsyndromic patients with isolated conotruncal defects have been shown to have a 22q11.2 microdeletion6. The incidence of these anomalies is estimated to be 1:4000 to 1:9700 live births7 and the deletion of 22q11.2 therefore represents one of the most common genetic defects.

A region of approximately 2Mb, referred to as the DiGeorge Critical Region (DGCR), is the most commonly deleted region and occurs in up to 90% of patients5,8,9. Within the DGCR, a minimal critical region of 300-480kb has been described10,11, containing several genes, including TUPLE1 (HIRA), TBX1, SLC25A1 (CTP) and CLTD.

22q13.3 Deletion Syndrome

The 22q13.3 deletion syndrome presents a recognisable phenotype characterised by hypotonia, delay or absence of expressive speech, global developmental delay, normal to accelerated growth and mild dysmorphic features12,13.

Some deletions of the terminal region of chromosome 22q are cytogenetically visible. However, a few cases of cryptic deletions have been reported12,14, suggesting that the actual incidence of 22q telomere deletion may be higher than previously thought.

Several observations of patients with 22q13.3 deletion showed that the SHANK3 (ProSAP2)20 gene, encoding a structural protein of the postsynaptic density of excitation synapses and expressed in the cortex and cerebellum of the brain15, was disrupted15,16,17 or deleted18, making it a candidate causative gene for this syndrome. The deletion varies dramatically in size from 130kb to 9Mb18,19,20. The use of 22q subtelomeric probes, distal to the ARSA gene, have therefore been recommended for examining all 22q13.3 deletions20,21.

Fluorescence in situ hybridisation (FISH) microscope image of the CytoCell DiGeorge/VCFS TUPLE1 and 22q13.3 Deletion probe.

Microscope image

Expand image.

Product documentation

What our customers say about CytoCell probes...

Our lab has been using a wide range of CytoCell FISH probes for a number of years, and have been increasing this range all the time. The probes have clear bright signals and show good reproducibility. CytoCell provides fast delivery of catalogue probes, and are very responsive when we have any queries or problems with their products.

Bridget Manasse, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, UK.

Bridget Manasse

Addenbrookes Hospital, Cambridge University Hosiptals NHS Foundation Trust, UK

In our hands, CytoCell FISH probes have proven to be of the highest quality with bright, easy to interpret signals, thus providing confidence in our results. OGT's customer support is outstanding, as their staff are extremely knowledgeable and truly care about their customers and their customers’ needs.

Jennie Thurston, Director of Cytogenetics, Carolinas Pathology Group, USA.

Jennie Thurston

Director of Cytogenetics, Carolinas Pathology Group, USA

I first came across CytoCell FISH probes in a previous lab I worked in and I was struck by the quality of the products. Since this time, I have been recommending and introducing CytoCell probes across all application areas — now they are the primary FISH probes used in our lab. They have an excellent range of products and their ready-to-use reagent format saves considerable time.

Elizabeth Benner, Medical Technologist, University of Arizona Health Network, USA.

Elizabeth Benner

Medical Technologist, University of Arizona Health Network, USA

We have been working with CytoCell fish probes for two decades because of their excellent clarity and intensity regardless of the size of the probe. It is so clear and simple to detect.

Dr. Marina Djurisic

Head of Laboratory of Medical Genetics, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”, Serbia

The quality and consistency of CytoCell’s probes means I can trust the results, and my clients get their results in a timely manner.

Dr. Theresa C. Brown, Director, Cytogenetics Laboratory, Hayward Genetics Center, Tulane University School of Medicine, USA.

Dr. Theresa C. Brown

Director, Cytogenetics Laboratory, Hayward Genetics Center, Tulane University School of Medicine, USA

It was very important for us to have more consistent results with our probes — easy-to-read bright signals and a range of vial sizes, which is much more cost-effective.

Janet Cowan, Director of the Cytogenetics Laboratory, Tufts Medical Center, USA.

Janet Cowan, PhD

Director of the Cytogenetics Laboratory, Tufts Medical Center, USA

Not only do CytoCell offer an extensive range of high-quality FISH probes, the customer support is also excellent — providing fast access to all the probes I need. The probes are highly consistent with bright signals allowing easy scoring of results.

Dr. Eric Crawford

Senior Director, Genetics Associates Inc., USA

The quality and reproducibility of results using the CytoCell kit has been vital in accurately detecting co-deletions in our glioma investigations. We now have a cost-effective test that we can rely on that is also easy to use and interpret. We've been consistently impressed with this kit - not to mention the support offered by OGT's customer service, and have completely transitioned over to CytoCell probes.

Gavin Cuthbert, FRCPath

Head of Cancer Cytogenetics, Northern Genetics Servce, Newcastle, UK

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References

  1. Pinsky L, DiGeorge AM, J Pediatr 1965;66:1049-54
  2. Shprintzen RJ et al., Cleft Palate J 1978;15:56-62
  3. Burn J et al., J Med Genet 1993;30:822-4
  4. Wilson DI et al., J Med Genet 1993;30:852-6
  5. Driscoll DA et al., J Am Hum Genet 1992;50:924-33
  6. Goldmuntz E et al., J Med Genet 1993;30:807-12
  7. Tezenas Du Montcel S et al., J Med Genet 1996;33:719
  8. Driscoll DA et al., Am J Med Genet 1992;44(2):261-8
  9. Scambler PJ et al., Genomics 1991;10:201-6
  10. Halford S et al., Hum Mol Genet 1993;2(12):2099-107
  11. Carlson C et al., Am J Hum Genet 1997;61:620-9
  12. Phelan MC et al., Am J Med Genet 2001;101(2):91-9
  13. Phelan MC. Orphanet Journal of Rare Diseases 2008, 3:14
  14. Prasad C et al., Clin Genet 2000;57(2):103-9
  15. Beeckers TM et al., J Neurochem 2002;81(5):903-10
  16. Bonaglia MC et al., Am J Hum Genet 2001;69(2):261-8
  17. Anderlid BM et al., Hum Genet 2002;110(5):439-43
  18. Wilson HL et al., J Med Genet 2003;40(8):575-84
  19. Dupont C et al., French Speaking Cytogeneticists Association Congress 2003
  20. Luciani J et al., J Med Genet 2003;40(9):690-6
  21. Chen CP et al., Prenat Diagn 2003;23(6):504-8