U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

AP3B2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

Epileptic encephalopathy, early infantile, 48, 617276, Autosomal recessive; EIEE48 (Early infantile epileptic encephalopathy) (AP3B2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Epileptic encephalopathy, early infantile, 48, 617276, Autosomal recessive; EIEE48 (Early infantile epileptic encephalopathy) (AP3B2 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

Early Infantile Epileptic Encephalopathy Panel

PreventionGenetics
United States
144124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Developmental and epileptic encephalopathy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
8886
  • 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

Epileptic encephalopathy, early infantile: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
7676
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes

Reference Laboratory Genetics
Spain
2828
  • C Sequence analysis of the entire coding region

Epilepsy

Asper Biogene Asper Biogene LLC
Estonia
210204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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.