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Results: 1 to 20 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

SCN3A Gene Epilepsy, focal, SCN3A related NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Comprehensive Epilepsy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1318
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

SCN3A - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Epilepsy exome

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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci)

Variantyx, Inc.
United States
1378
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

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

Epilepsy: SCN3A-Related Epilepsy via the SCN3A 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

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

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

SCN3A

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Epilepsy Panel 

CGC Genetics Unilabs
Portugal
1832
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 43

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.