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Results: 1 to 20 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cystic Fibrosis

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombophilia Multi-Gene Panel

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
32
  • T Targeted variant analysis

Diabetes Mellitus, 6q24-Related Transient Neonatal Diabetes

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • U Uniparental disomy study (UPD)

Chromosome-7 Related Russell-Silver Syndrome

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • U Uniparental disomy study (UPD)

Maternal Uniparental Disomy, Chromosome 14

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • U Uniparental disomy study (UPD)

Paternal Uniparental Disomy, Chromosome 14

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • U Uniparental disomy study (UPD)

Hidrotic Ectodermal Dysplasia 2

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • C Sequence analysis of the entire coding region

X-Linked Icthyosis

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • M FISH-metaphase

Retinoblastoma

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • I FISH-interphase
  • M FISH-metaphase

Kallmann Syndrome 1

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • M FISH-metaphase

22q11.2 Deletion Syndrome

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • M FISH-metaphase

SRY-Related 46,XY Disorders of Sex Development and 46,XY Complete Gonadal Dysgenesis

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • M FISH-metaphase

LIS1-Associated Lissencephaly/Subcortical Band Heterotopia

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • M FISH-metaphase

Y Chromosome Deletion Testing

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
12
  • D Deletion/duplication analysis

46,XX Testicular Disorder of Sex Development

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
12
  • M FISH-metaphase

Genetic Prion Diseases

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
51
  • C Sequence analysis of the entire coding region

Factor V HR2 Haplotype

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • T Targeted variant analysis

Factor V Leiden

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • T Targeted variant analysis

Prothrombin-Related Thrombophilia

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • T Targeted variant analysis

HFE- Associated Hereditary Hemochromatosis

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • T Targeted variant analysis

Results: 1 to 20 of 26

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.