U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 21 to 40 of 74

Tests names and labsConditionsGenes, analytes, and microbesMethods

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel

PreventionGenetics, part of Exact Sciences
United States
3439
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Methylmalonic Acidemia and Homocystinuria Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2929
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia Exome

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
326300
  • C Sequence analysis of the entire coding region

Invitae Metabolic Newborn Screening Confirmation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated C3 Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
1519
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methlymalonyl-CoA Epimerase Deficiency via the MCEE Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MCEE Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

MCEE Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MCEE Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

MCEE Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methylmalonic Acidemia Panel

PreventionGenetics, part of Exact Sciences
United States
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cerebral Palsy Spectrum Disorders Panel

Baylor Genetics
United States
1419
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Methylmalonic aciduria (WES based NGS panel of 15 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
115
  • C Sequence analysis of the entire coding region

Methylmalonyl-CoA epimerase deficiency (sequence analysis of MCEE gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 74

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.