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Results: 21 to 40 of 121

Tests names and labsConditionsGenes, analytes, and microbesMethods

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

CHILDHOOD EPILEPSY

Amplexa Genetics Amplexa Genetics A/S
Denmark
1125
  • S Mutation scanning of the entire coding region

Epilepsy - Intellectual Disability - Autism Spectrum Disorder

Amplexa Genetics Amplexa Genetics A/S
Denmark
1600
  • S Mutation scanning of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome

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

Invitae Purine Metabolism Disorders Panel

Invitae
United States
2618
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
144124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ADSL Sequence and Deletion/Duplication Analysis

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

ADSL Sequence Analysis

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

ADSL Prenatal Sequence Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

ADSL Familial Mutation/Variant Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

ADSL Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Adenylosuccinase Deficiency via the ADSL 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

Rett/Angelman Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
2128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Epilepsy Panel

Baylor Genetics
United States
1397
  • C Sequence analysis of the entire coding region

STAT Epilepsy Panel

Baylor Genetics
United States
176
  • C Sequence analysis of the entire coding region

Neurodevelopmental Disorders Panel

Baylor Genetics
United States
1236
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 121

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.