U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 34

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ashkenazi Carrier Screening Panel

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
14
  • T Targeted variant analysis

HFE-Associated Hereditary Hemochromatosis

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • T Targeted variant analysis

Angelman Syndrome

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • M Methylation analysis

Dystonia, Early Onset Primary (DYT1)

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • T Targeted variant analysis

CFTR-Related Disorders

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • T Targeted variant analysis

Beta Thalassemia

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
31
  • C Sequence analysis of the entire coding region

Alpha thalassemia

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
82
  • T Targeted variant analysis

Myotonic Dystrophy Type 2

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • T Targeted variant analysis

X-linked Ichthyosis with steryl-sulfatase deficiency

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Sensorineural Hearing Loss

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
12
  • C Sequence analysis of the entire coding region

Hyperkalemic Periodic Paralysis

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • E Sequence analysis of select exons

Steroid 5-Alpha Reductase Deficiency

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • C Sequence analysis of the entire coding region

Transthyretin Amyloidosis

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • C Sequence analysis of the entire coding region

Thanatophoric Dysplasia

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
21
  • E Sequence analysis of select exons

Spinocerebellar Ataxia Panel (SCA1, SCA2, SCA3, SCA6, SCA7)

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
55
  • T Targeted variant analysis

Spinobulbar Muscular Dystrophy

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • T Targeted variant analysis

Spinal Muscular Atrophy

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
12
  • D Deletion/duplication analysis

Prader-Willi Syndrome

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • M Methylation analysis

Periodic Fever Syndromes

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
33
  • C Sequence analysis of the entire coding region

Oculopharyngeal Muscular Dystrophy

Molecular Genetics Laboratory BC Children's and BC Women's Hospitals
Canada
11
  • T Targeted variant analysis

Results: 1 to 20 of 34

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.