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Results: 61 to 79 of 79

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hypoglycemia NGS Panel

Fulgent Genetics
United States
7153
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
636298
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
661306
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease and Gluconeogenesis Sequencing Panel

Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
329
  • C Sequence analysis of the entire coding region

Pyruvate Carboxylase Deficiency: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Invitae Elevated Citrulline (Citrullinemia) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carboxylases

Biochemical Genetics Laboratory University of California San Diego
United States
44
  • E Enzyme assay

Pyruvate carboxylase deficiency

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

PC 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
51284672
  • 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

TCA Cycle NGS Panel

Fulgent Genetics
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lactic Acidosis-Pyruvate NGS Panel

Fulgent Genetics
United States
12969
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leukoencephalopathy NGS Panel

Fulgent Genetics
United States
16970
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

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: 61 to 79 of 79

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.