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Results: 41 to 56 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Hirschsprung disease: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
54
  • C Sequence analysis of the entire coding region

Monogenic Kidney Stone Panel

Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic
United States
21170
  • C Sequence analysis of the entire coding region

Non syndromic Hirschsprung Disease: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
110
  • C Sequence analysis of the entire coding region

Syndromic Hirschsprung Disease: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
128
  • C Sequence analysis of the entire coding region

HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL (ONDINE SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
18
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

HIRSCHSPRUNG´S DISEASE

Laboratorio de Genetica Clinica SL
Spain
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CAKUT

Hildebrandt Laboratory Boston Children's Hospital
United States
2204
  • C Sequence analysis of the entire coding region

Renal Dysplasia, Renal Agenesia, CAKUT Panel

CeGaT GmbH
Germany
132
  • C Sequence analysis of the entire coding region

GDNF Single Gene

Fulgent Genetics
United States
31
  • 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
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Central Hypoventilation Syndrome NGS Panel

Fulgent Genetics
United States
146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lung Disorders NGS Panel

Fulgent Genetics
United States
7651
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GDNF

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
11
  • 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: 41 to 56 of 56

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.