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Results: 41 to 49 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ketotic Hypoglycemia Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogen storage disease type 6

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

PYGL

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

PYGL 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

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease Type VI

Joint Metabolic Clinic-Laboratory Chinese University of Hong Kong
Hong Kong
11
  • S Mutation scanning 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

Results: 41 to 49 of 49

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.