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Results: 121 to 139 of 139

Tests names and labsConditionsGenes, analytes, and microbesMethods

Metabolic Myopathy and Rhabdomyolysis Panel

Blueprint Genetics
Finland
452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rhabdomyolysis & Metabolic Myopathies NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4647
  • C Sequence analysis of the entire coding region

Hemolytic Anemia Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
3334
  • E Sequence analysis of select exons

Glycogen storage disease type 7

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

Metabolic Myopathies Panel

CeGaT GmbH
Germany
2644
  • C Sequence analysis of the entire coding region

Hereditary Hemolytic Anemia Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2128
  • C Sequence analysis of the entire coding region

PFKM Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Muscle Weakness (Myopathy, Muscular Dystrophy)

MGZ Medical Genetics Center
Germany
6179
  • C Sequence analysis of the entire coding region

Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis

MGZ Medical Genetics Center
Germany
528
  • C Sequence analysis of the entire coding region

PFKM Single Gene

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

Glycogen storage disease VII, PFKM deficiency

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PFKM Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myopathy-Rhabdomyolysis NGS Panel

Fulgent Genetics
United States
3729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
1314
  • C Sequence analysis of the entire coding region

Metaboseq Gene Sequencing Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
5755
  • C Sequence analysis of the entire coding region

Hypoglycemia, Hyperinsulinism, Ketone Metabolism

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
242
  • C Sequence analysis of the entire coding region

Results: 121 to 139 of 139

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.