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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hyperinsulinism Panel

Genetic Services Laboratory University of Chicago
United States
1324
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders exome

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PGmax™ - Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel

PreventionGenetics, part of Exact Sciences
United States
101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Disorders of Glycosylation Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq® Cardio Single Gene Analysis

Integrated Genetics Westborough LabCorp
United States
55177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inheritest 300 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
172350
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

GeneSeq® Cardio: Familial Cardiomyopathy Panel

Integrated Genetics Westborough LabCorp
United States
1767
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inheritest High Frequency panel

Integrated Genetics Westborough LabCorp
United States
109110
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 100 PLUS panel

Integrated Genetics Westborough LabCorp
United States
115142
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Hereditary Cystic and Glomerular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
1764
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

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

Metabolic Liver Failure Panel

Blueprint Genetics
Finland
1416
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
15102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation Panel

Blueprint Genetics
Finland
147
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Rett and Angelman Syndromes and Related Disorders Panel

Invitae
United States
2822
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RPL36AL Single Gene

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.