HSCR5 FISH Probe
The HSCR5 FISH probe is designed to hybridize to the HSCR5 gene and is primarily used for detecting amplifications and deletions associated with the gene. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe can be labeled in one of five colors. Each probe is sold in a 20 test kit (approximately 20 slides - 22x22 mm area) and includes hybridization buffer. Please note that due to design optimizations, prices are subject to change.
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HSCR5-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
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| HSCR5-20-RE | 20 (40 μL) | 200 μL |  |
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| HSCR5-20-GO | 20 (40 μL) | 200 μL |  |
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| HSCR5-20-GR | 20 (40 μL) | 200 μL |  |
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| HSCR5-20-AQ | 20 (40 μL) | 200 μL |  |
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| HSCR5-20-DIG | 20 (40 μL) | 200 μL |  |
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| HSCR5-20-BIO | 20 (40 μL) | 200 μL |  |
Gene Summary
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008 [PubMed 17965226]). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008 [PubMed 17965226]). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see MIM 142623.[supplied by OMIM, Feb 2011]
Gene Details
Gene Symbol: HSCR5
Gene Name: Hirschsprung Disease, Susceptibility To, 5
Locus: 9q31
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: HSCR5 FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: HSCR5-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping