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Results: 1 to 20 of 81

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cystic Fibrosis (CFTR) Sequencing

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
11
  • C Sequence analysis of the entire coding region

Long Q-T Syndrome

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
116
  • C Sequence analysis of the entire coding region

Hypoparathyroidism

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
122
  • C Sequence analysis of the entire coding region

Connective Tissue Disorder

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
149
  • C Sequence analysis of the entire coding region

Periodic Fever Syndrome

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
17
  • C Sequence analysis of the entire coding region

Short Stature

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
186
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
129
  • C Sequence analysis of the entire coding region

Macrocephaly/Overgrowth

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
143
  • C Sequence analysis of the entire coding region

Monogenic Obesity

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
136
  • C Sequence analysis of the entire coding region

Lysosomal Disorders

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
1100
  • C Sequence analysis of the entire coding region

Hypothyroidism - Resistance to TH

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
119
  • C Sequence analysis of the entire coding region

Hypopituitarism

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
19
  • C Sequence analysis of the entire coding region

Hypophosphatemic Rickets

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
113
  • C Sequence analysis of the entire coding region

Glutaric acidemia type 1

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
11
  • C Sequence analysis of the entire coding region

Galactosemia Type 1

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
11
  • C Sequence analysis of the entire coding region

Adam-Oliver Syndrome

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
56
  • C Sequence analysis of the entire coding region

Myotonic Dystrophy

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
11
  • C Sequence analysis of the entire coding region

Familial Hypercholesterolemia

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
11
  • C Sequence analysis of the entire coding region

Huntington Disease-HD

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
11
  • T Targeted variant analysis

Spinal Muscular Atrophy

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
11
  • T Targeted variant analysis

Results: 1 to 20 of 81

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.