U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 41 to 60 of 60

Tests names and labsConditionsGenes, analytes, and microbesMethods

Combined malonic and methylmalonic aciduria: Full gene sequencing

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

Horizon 274 Male

Natera, Inc.
United States
244254
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Horizon 274 Plus TSE

Natera, Inc.
United States
265274
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274

Natera, Inc.
United States
265274
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274

Natera, Inc.
United States
265274
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lipid Metabolism Deficiency NGS Panel

Fulgent Genetics
United States
8071
  • 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

Invitae Elevated C3-DC Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methylmalonic Acidemia Sequencing NextGen Panel

Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado
United States
2513
  • C Sequence analysis of the entire coding region

Acyl-CoA synthetase family, member 3 deficiency (ACSF3)

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

Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ACSF3 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

Methylmalonic Acid Metabolism NGS Panel

Fulgent Genetics
United States
1313
  • 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

Results: 41 to 60 of 60

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.