Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 76

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

pipecolic acid

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
21
  • A Analyte

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Pyridoxine-dependent epilepsy

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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-Dependent Epilepsy via the ALDH7A1 Gene

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

ALDH7A1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

ALDH7A1. Detection of the mutation p.Glu399Gln by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

ALDH7A1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

ALDH7A1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

ALDH7A1 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Pyridoxine-Dependent Seizures Panel - Plasma

Baylor Miraca Genetics Laboratories
United States
23
  • A Analyte

Pyridoxine-Dependent Seizures Panel - Cerebrospinal Fluid

Baylor Miraca Genetics Laboratories
United States
23
  • A Analyte

Pyridoxine-Dependent Epilepsy - ALDH7A1 Del/Dup Analysis

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

Pyridoxine-Dependent Epilepsy - ALDH7A1 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

Results: 1 to 20 of 76

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.

Support Center