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Results: 1 to 20 of 50

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Pyridoxamine 5'-phosphate oxidase deficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PNPO Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

ALDH7A1 Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection

PreventionGenetics
United States
147153
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy Panel - Comprehensive

Molecular Genetics Laboratory London Health Sciences Centre
Canada
6969
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Pyridoxine 5'-Phosphate Oxidase Deficiency via PNPO Gene Sequencing with CNV Detection

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy Sequencing Panel

PreventionGenetics
United States
8482
  • 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 Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • D Deletion/duplication analysis

Pyridoxamine 5'-Phosphate Oxidase Deficiency - PNPO Sequencing

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

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
Netherlands
4160
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IDNext

Ambry Genetics
United States
221140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiRapid reflex EpilepsyNext

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiRapid

Ambry Genetics
United States
3816
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext: Neuro

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy

Athena Diagnostics Inc
United States
6667
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
234234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 50

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.

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