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Results: 21 to 40 of 85

Tests names and labsConditionsGenes, analytes, and microbesMethods

Citrullinemia Type 1

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Urea Cycle Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
109
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ASS1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

ASS1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

ASS1 Sequence Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Amino Acid Analysis - Plasma

Baylor Genetics
United States
2526
  • A Analyte

Citrullinemia, Type I via the ASS1 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

Argininosuccinicate Synthetase Enzyme Analysis

Baylor Genetics
United States
11
  • E Enzyme assay

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
4160
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Hyperammonemia and urea cycle disorders panel. 48-gene NGS panel.

Genologica Medica
Spain
4948
  • C Sequence analysis of the entire coding region

Citrullinemia Type I Genetic Testing

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • C Sequence analysis of the entire coding region

Extended Carrier Screening

HNL Genomics Connective Tissue Gene Tests
United States
4445
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 137 Male

Natera, Inc.
United States
130133
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 85

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.