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Results: 1 to 20 of 44 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Cortical dysplasia-focal epilepsy syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel

PreventionGenetics
United States
8183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel

PreventionGenetics
United States
1313
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy Panel - Comprehensive

Molecular Genetics Laboratory London Health Sciences Centre
Canada
6969
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy Sequencing Panel

PreventionGenetics
United States
8280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel

PreventionGenetics
United States
4240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cortical Dysplasia-Focal Epilepsy Syndrome via the CNTNAP2 Gene

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

Cortical Dysplasia-Focal Epilepsy Syndrome , Sequencing CNTNAP2 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

CNTNAP2 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

CNTNAP2 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Focal Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
1914
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cortical Dysplasia-Focal Epilepsy Syndrome (CNTNAP2) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • T Targeted variant analysis

CustomNext-Epilepsy

Ambry Genetics
United States
10572
  • 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

Invitae Epilepsy Panel

Invitae
United States
156125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset Epileptic Encephalopathy NGS Panel

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

Idiopathic Generalized Epilepsy NGS Panel

Fulgent Genetics
United States
106789
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 44

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.

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