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Results: 81 to 90 of 90

Tests names and labsConditionsGenes, analytes, and microbesMethods

Test for Pfeiffer syndrome

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
12
  • E Sequence analysis of select exons

Test for Spinal and Bulbar Muscular Atrophy

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • T Targeted variant analysis

Test for Hypochondroplasia

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • E Sequence analysis of select exons

Test for X-Linked Mental Retardation Associated with Fragile Site FRAXE

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • T Targeted variant analysis

Test for FGFR2-Related Craniosynostosis

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • E Sequence analysis of select exons

Test for Angelman Syndrome

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • D Deletion/duplication analysis
  • M Methylation analysis
  • U Uniparental disomy study (UPD)

Test for Spinal Muscular Atrophy (SMN1)

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • D Deletion/duplication analysis

Test for Dystrophinopathies

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Test for CFTR-Related Disorders

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Test for FMR1-Related Disorders

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • T Targeted variant analysis

Results: 81 to 90 of 90

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.