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Results: 41 to 52 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

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

ALDOA 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

ALDOA Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • 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

ALDOA Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Aldolase A deficiency

HFI Laboratory at Boston University Boston University
United States
31
  • E Enzyme assay

Results: 41 to 52 of 52

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.