Hirschsprung disease research testing
GTR Test Accession: Help GTR000011470.8
Last updated in GTR: 2023-09-20
Last annual review date for the lab: 2023-09-07 LinkOut
At a Glance
Aganglionic megacolon; Complete trisomy 21 syndrome; Congenital central hypoventilation; ...
Genes (9): Help
ECE1 (1p36.12), EDN3 (20q13.32), EDNRB (13q22.3), GDNF (5p13.2), KIFBP (10q22.1), ...
Study uses various methods for further characterization of known loci …
Currently open
Inclusion Criteria: 1. individuals with Hirschsprung disease and their biological …
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Study Description
Name: Help
Genetic Analysis of Hirschsprung Disease
ClinicalTrials.gov identifier: Help
Protocol number: Help
NA_00035221 and s17-01813
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Study uses various methods for further characterization of known loci associated with the disease and discovery of new susceptibility and modifier loci. Laboratory accepts samples from all individuals with Hirschsprung and their families, including: syndromic or non-syndromic, all segment lengths, and isolated case or multiple family members affected.
View citations (5)
  • Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, Chakravarti A. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet. 2002;32(2):237-44. doi:10.1038/ng998. Epub 2002 Sep 23. PMID: 12355085.
  • A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Emison ES, et al. Nature. 2005;434(7035):857-63. doi:10.1038/nature03467. PMID: 15829955.
  • Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association. Arnold S, et al. Hum Mutat. 2009;30(5):771-5. doi:10.1002/humu.20944. PMID: 19306335.
  • Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Emison ES, et al. Am J Hum Genet. 2010;87(1):60-74. doi:10.1016/j.ajhg.2010.06.007. PMID: 20598273.
  • Jiang Q, Ho YY, Hao L, Nichols Berrios C, Chakravarti A. Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease. PLoS One. 2011;6(6):e21219. doi:10.1371/journal.pone.0021219. Epub 2011 Jun 21. PMID: 21712996.
Study aims and hypotheses: Help
Study Aims: • Collection of biological samples along with detailed, accurate clinical data from a large number of people with Hirschsprung disease • Discovery of new genes and gene variants associated with Hirschsprung disease • Correlation of genetic variants with disease risk, presentation, complications and clinical outcomes
Study type: Help
Observational study
Offered by: Help
Aravinda Chakravarti Research Laboratory
Person responsible for the study: Help
Aravinda Chakravarti, PhD, Lab Director
Study contact: Help
Jenna Pucel, MS, Genetic Counselor
Research contact policy: Help
Laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.
Recruitment status: Help
Currently open
Eligibility criteria: Help
Inclusion Criteria: 1. individuals with Hirschsprung disease and their biological relatives (any segment length of disease, with or without other congenital anomalies, simplex or multiplex family) Exclusion Criteria: 1. affected individual unable or unwilling to provide blood or saliva sample for genetic studies; 2. individual, parent, or legal guardian unable … View more
Consent form: Help
Not provided
Conditions Help
Total conditions: 25
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 9
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 4
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
SNP Detection
* Instrument: Not provided
Technical Information
Test Comments: Help
Samples received in the laboratory are stored for various genomic studies of Hirschsprung disease. No specific test or set of tests will be completed on every sample. Testing completed on individual samples will vary based on current and future funded research aims, but will be consistent with study consent.
The laboratory is not CLIA certified and individual results are not directly returned to study participants or their healthcare providers.
Recommended fields not provided:
Additional Information

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