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Results: 1 to 20 of 55 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

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

Neurodegeneration due to cerebral folate transport deficiency

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

Disorders of Folate Metabolism and Transport Sequencing Panel

PreventionGenetics
United States
33
  • 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

Early Infantile Epileptic Encephalopathy Sequencing Panel

PreventionGenetics
United States
8280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cerebral Folate Deficiency via the FOLR1 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, Recessive Sequencing Panel

PreventionGenetics
United States
4240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FOLR1. Complete sequencing

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

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rett/Angelman Syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2123
  • C Sequence analysis of the entire coding region

Rett/Angelman Syndrome Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
1920
  • D Deletion/duplication analysis

Treatable Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
7251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myoclonic Seizures B Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3618
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FOLR1 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • C Sequence analysis of the entire coding region

Invitae Early Infantile Epileptic Encephalopathy Panel

Invitae
United States
5643
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
111103
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3053447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset Epileptic Encephalopathy NGS Panel

Fulgent Genetics
United States
1006133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Essential Epilepsy NGS Panel

Fulgent Genetics
United States
79371
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded

Ambry Genetics
United States
105196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 55

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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