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Results: 1 to 20 of 27 (representing 13 labs)

Tests names and labsConditionsGenes and analytesMethods

Glycogen storage disease type 9C

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

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

PHKG2 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • T Targeted variant analysis

PHKG2 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • D Deletion/duplication analysis

PHKG2 Comprehensive - Sequence & Deletion/Duplication Analysis

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

PHKG2 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

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

Glycogen Storage Disease Type IX via the PHKG2 Gene

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

GLYCOGEN STORAGE: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
2019
  • C Sequence analysis of the entire coding region

GLYCOGEN STORAGE DISEASE, TYPE 9C

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

Invitae Comprehensive Glycogen Storage Disease Panel

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

Invitae Liver Glycogen Storage Disease Panel

Invitae
United States
1711
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

GLYCOGEN STORAGE DISEASE

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

Results: 1 to 20 of 27

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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