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Results: 1 to 20 of 44 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
4140
  • C Sequence analysis of the entire coding region

Glycogen storage disease type VII

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

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

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies

BLOODGENETICS
Spain
3530
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Sequencing Panel

PreventionGenetics
United States
148124
  • 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

PFKM Sequence Analysis

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

PFKM Deletion/Duplication Analysis

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

PFKM Sequence Analysis (Prenatal Diagnosis)

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

PFKM Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

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

Glycogen Storage Disease Type VII (Tarui Disease) via the PFKM Gene

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

GLYCOGEN STORAGE DISEASE, TYPE 7

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

Glycogen Storage Disease Type 7 , Sequencing PFKM Gene

Reference Laboratory Genetics
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 Muscle Glycogen Storage Disease Panel

Invitae
United States
2014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • 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

Glycogen Storage Disease Del/Dup Panel

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

Results: 1 to 20 of 44

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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