U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

SCN1A - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Familial Hemiplegic Migraine Panel

Invitae
United States
217
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Episodic Ataxia Panel

PreventionGenetics, part of Exact Sciences
United States
6136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy exome

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Febrile seizures, familial, 3A, 604403, Autosomal dominant; GEFSP2 (Generalized epilepsy with febrile seizures-plus) (SCN1A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Epilepsy, generalized, with febrile seizures plus, type 2, 604403, Autosomal dominant (Generalized epilepsy with febrile seizures-plus) (SCN1A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Whole Exome Sequencing for Hemiplegic Migraine, Epilepsy, Ataxia, CADASIL/Small Vessel Disease

Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology
Australia
1410
  • 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 Epilepsy Panel

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

Next Generation Sequencing for FHM, EA1, EA2, SCA6, CADASIL, CARASIL, COL4A1/2, Fabry Disease, Small Vessel Disease, Epilepsy

Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology
Australia
1812
  • C Sequence analysis of the entire coding region

Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • 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

Clinical Epilepsy NGS Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
5445
  • C Sequence analysis of the entire coding region

SCN1A

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

Generalized idiopathic and focal epilepsy panel. 34-gene NGS panel.

Genologica Medica
Spain
7434
  • C Sequence analysis of the entire coding region

Epileptic encephalopathy panel. 128-gene NGS panel.

Genologica Medica
Spain
197128
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 80

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.