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Results: 1 to 20 of 64

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

SLC6A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Neurodevelopmental Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
404241
  • D Deletion/duplication analysis

Intellectual Disability exome

Genetic Services Laboratory University of Chicago
United States
6216
  • 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

Myoclonic-atonic epilepsy, 616421, Autosomal dominant; MAE (Myoclonic-astastic epilepsy) (SLC6A1 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

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

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Invitae Neurotransmitter Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5244
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Specific Intellectual Disability Panel

Genetic Services Laboratory University of Chicago
United States
6216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Baylor Genetics
United States
1397
  • C Sequence analysis of the entire coding region

Neurodevelopmental Disorders Panel

Baylor Genetics
United States
1236
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 64

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.