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Results: 1 to 20 of 53 (representing 23 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Glycogen storage disease type III

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
2423
  • E Enzyme assay

Cori Disease

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
11
  • E Enzyme assay

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel

PreventionGenetics
United States
7259
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Sequencing Panel

PreventionGenetics
United States
148124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Hypoglycemia Sequencing Panel

PreventionGenetics
United States
2322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

AGL. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

AGL. Detection of the mutations p.Arg864X, p.Arg1228X and p.Trp680X

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel

PreventionGenetics
United States
2928
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

Glycogen Storage Disease Type III via the AGL Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiac Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
174107
  • C Sequence analysis of the entire coding region

GLYCOGEN STORAGE DISEASE, TYPE 3

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease Type 3B, Mutations (c.17_18delAG, Gln6X) AGL Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Glycogen Storage Disease Type 3, Sequencing AGL Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Glycogen Storage Disease Panel

Invitae
United States
3223
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 53

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.

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