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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
123129
  • E Sequence analysis of select exons

ECE1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870, Autosomal dominant; HCAD (ECE1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870, Autosomal dominant; HCAD (ECE1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Hirschsprung Disease (Non-syndromic) Panel

PreventionGenetics, part of Exact Sciences
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hirschsprung Disease, Cardiac Defects and Autonomic Dysfunction via the ECE1 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes

Reference Laboratory Genetics
Spain
11995
  • C Sequence analysis of the entire coding region

Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
66
  • C Sequence analysis of the entire coding region

ECE1 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hirschsprung Disease NGS Panel

Fulgent Genetics
United States
155
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hirschsprung disease research testing

Aravinda Chakravarti Research Laboratory New York University School of Medicine
United States
2510
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 13 of 13

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.