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Results: 801 to 811 of 811

Tests names and labsConditionsGenes, analytes, and microbesMethods

Chromosome breakage analysis for Fanconi Anemia

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • B Chromosome breakage studies

Congenital Fibrosis of Extraocular Muscles Type

Engle Laboratory Boston Children's Hospital
United States
94
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Seckel syndrome

Laboratory of Andrew Jackson Institute of Genetics and Cancer
United Kingdom
13
  • E Sequence analysis of select exons

Chromosomal breakage test

Comprehensive Center for Fanconi Anemia Dana-Farber Cancer Institute
United States
11
  • B Chromosome breakage studies

Congenital Myopathy, Undefined/Nonspecific

Beggs Laboratory - Congenital Myopathy Research Program Boston Children's Hospital
United States
11
  • C Sequence analysis of the entire coding region

Marcus Gunn Phenomenon-Marcus Gunn Jaw Winking Syndrome

Engle Laboratory Boston Children's Hospital
United States
11
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis, nonsyndromic test

Ethylin Wang Jabs Laboratory Mount Sinai Medical Center, Icahn School of Medicine
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert Syndrome and Related Disorders

Gleeson Lab University of California San Diego - Department of Neuroscience
United States
11
  • C Sequence analysis of the entire coding region

Fourth cranial nerve palsy, familial

Engle Laboratory Boston Children's Hospital
United States
11
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Centronuclear Myopathy, all

Beggs Laboratory - Congenital Myopathy Research Program Boston Children's Hospital
United States
67
  • 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: 801 to 811 of 811

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.