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Results: 781 to 797 of 797

Tests names and labsConditionsGenes, analytes, and microbesMethods

Chromosome analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
71
  • K Karyotyping

SNP Microarray for postnatal/prenatal constitutional disorders

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Chromosome analysis

ARUP Laboratories, Cytogenetics and Genomic Microarray ARUP Laboratories
United States
156
  • K Karyotyping

Cytogenomic SNP Microarray

ARUP Laboratories, Cytogenetics and Genomic Microarray ARUP Laboratories
United States
161
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Keloid Genetic testing

Genetic Causes of Keloid Formation Laboratory University of Texas Southwestern Medical Center
United States
11
  • L Linkage analysis
  • S Mutation scanning of the entire coding region

Dentin Dysplasia, Type I

Dental Research Laboratory University of Michigan School of Dentistry
United States
11
  • C Sequence analysis of the entire coding region

Duane retraction syndrome

Engle Laboratory Boston Children's Hospital
United States
33
  • L Linkage analysis
  • S Mutation scanning of the entire coding region

Facial paresis, hereditary congenital

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

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

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

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
57
  • 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: 781 to 797 of 797

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.