Related Experiment Video

Updated: Oct 28, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
05:45

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Published on: April 26, 2019

Genetic Testing in Hirschsprung Disease

Michele Spencer-Manzon1, Robert A Cowles2, Allan M Goldstein3

  • 1Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.

Gastroenterology Clinics of North America
|October 26, 2026
PubMed

Keywords:
Enteric nervous systemGenetic counselingGenetic testingHirschsprung diseaseRET proto-oncogeneSyndromic Hirschsprung disease

More Related Videos

A Quantitative Cell Migration Assay for Murine Enteric Neural Progenitors08:26

A Quantitative Cell Migration Assay for Murine Enteric Neural Progenitors

Published on: September 18, 2013

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...