GTR Home > Tests > Hirschsprung disease research testing

Overview

Test name

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Hirschsprung disease research testing

Purpose of the test

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Contribute to generalizable knowledge

Condition

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25 conditions tested. Click Condition tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Microarray
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
TTargeted variant analysis
SNP Detection

Summary of what is tested

9 genes and variants, 1 chromosomal regions. Click Methodology tab for more information.

Genes

Chromosomal regions/Mitochondria

  • Human genome

Description of study

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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.

Researchers

Person responsible for the studyHelpAravinda Chakravarti, PhD, Lab Director
Study contactHelpCourtney Nichols Berrios, ScM, CGC, Genetic Counselor, cberrios@jhmi.edu, 410-502-7541 (phone), 410-502-7544 (fax), hirschsprung@jhmi.edu

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.