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Results: 1 to 20 of 55 (representing 22 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

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

ARHGEF9 sequencing

Genetic Services Laboratory University of Chicago
United States
21
  • 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

X-Linked Intellectual Disability Sequencing Panel

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

Epilepsy: Early Infantile Epileptic Encephalopathy 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 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: Dominant and X-linked Sequencing Panel

PreventionGenetics
United States
4139
  • 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

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
4258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
1818
  • C Sequence analysis of the entire coding region

HYPEREKPLEXIA,- EPILEPSY

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

HYPEREKPLEXIA, HEREDITARY

Laboratorio de Genetica Clinica SL
Spain
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy Type 8 , Sequencing ARHGEF9 Gene

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

Invitae Neurotransmitter Disorders Panel

Invitae
United States
3327
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Hyperekplexia Panel

Invitae
United States
86
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHOP Epilepsy Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
9189
  • C Sequence analysis of the entire coding region

Treatable Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
7251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy (EIEE) Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5534
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 55

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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