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Results: 1 to 20 of 60

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Epileptic encephalopathy, early infantile type 8

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Hyperekplexia panel

Centogene AG - the Rare Disease Company
Germany
15
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperekplexia

(AC) Atlanta Center: Medical Neurogenetics, LLC.
United States
11
  • C Sequence analysis of the entire coding region

ARHGEF9-Related Hyperekplexia

(AC) Atlanta Center: Medical Neurogenetics, LLC.
United States
11
  • C Sequence analysis of the entire coding region

ARHGEF9 sequencing

Genetic Services Laboratory University of Chicago
United States
21
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-linked Intellectual Disability and Epilepsy via the ARHGEF9 Gene

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

Early Infantile Epileptic Encephalopathy NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
6664
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy, Dominant and X-linked NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
2624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Non-Specific Intellectual Disability Panel

Genetic Services Laboratory University of Chicago
United States
1173
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
4245
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy

Asper Biotech Asper Biotech Ltd.
Estonia
121123
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3056447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset Epileptic Encephalopathy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
1006133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Idiopathic Generalized Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
106889
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Essential Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
79371
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epileptic encephalopathies

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3535
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
104100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 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.