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Results: 21 to 40 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

Developmental and epileptic encephalopathy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
9190
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11486
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

Epilepsy Deletion/Duplication Panel

GeneDx
United States
1131
  • D Deletion/duplication analysis

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Xpanded Panel

GeneDx
United States
1999
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel

GeneDx
United States
1127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epileptic encephalopathy, infantile or early childhood: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability

Athena Diagnostics
United States
5756
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics
United States
233234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies

Athena Diagnostics
United States
8084
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
143135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 47

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.