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Results: 1 to 20 of 29 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Glycogen storage disease type VIB

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

Glycogen storage disease VII

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

Metabolic Hypoglycemia Sequencing Panel

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

PYGL. Complete sequencing

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

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

PYGL Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

PYGL Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PYGL Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PYGL Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Glycogen Storage Disease Type VI via the PYGL Gene

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

Glycogen Storage Disease Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1717
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ketotic Hypoglycemia Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1010
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1717
  • D Deletion/duplication analysis

Ketotic Hypoglycemia Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1010
  • D Deletion/duplication analysis

Ketotic Hypoglycemia Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3313
  • C Sequence analysis of the entire coding region

GLYCOGEN STORAGE DISEASE

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2424
  • C Sequence analysis of the entire coding region

Glycogen storage disease type 6

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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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