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Results: 21 to 40 of 66

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Pyridoxamine 5'-Phosphate Oxidase Deficiency - PNPO Del/Dup Analysis

Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado
United States
11
  • D Deletion/duplication analysis

Pyridoxamine 5'-Phosphate Oxidase Deficiency - PNPO Sequencing

Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
4160
  • C Sequence analysis of the entire coding region

PNPO

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • 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

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Metabolic epilepsy panel. 41-gene NGS panel.

Genologica Medica
Spain
5341
  • 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

Complete epilepsy panel. NGS panel of 283 genes.

Genologica Medica
Spain
409283
  • C Sequence analysis of the entire coding region

PNPO Full Gene Sequencing Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
11
  • C Sequence analysis of the entire coding region

Serotonin Metabolism Deficiency (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
712
  • 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

Epilepsy Panel, STAT

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
4421
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 66

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.