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Results: 1 to 20 of 31

Tests names and labsConditionsGenes, analytes, and microbesMethods

CACNB4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Episodic Ataxia Panel

PreventionGenetics, Part of Exact Sciences
United States
6136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy, idiopathic generalized, susceptibility to, 9, 607682, Autosomal dominant; EIG9 (Juvenile myoclonic epilepsy) (CACNB4 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

Generalized idiopathic and focal epilepsy panel. 34-gene NGS panel.

Genologica Medica
Spain
7434
  • C Sequence analysis of the entire coding region

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • 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

CACNB4 Full Gene Sequencing Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
21
  • C Sequence analysis of the entire coding region

Myoclonic Epilepsy (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
14125
  • C Sequence analysis of the entire coding region

Epilepsy Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13283
  • C Sequence analysis of the entire coding region

Childhood Epilepsy NGS Panel

Fulgent Genetics
United States
354209
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Adolescent/Adult Epilepsy NGS Panel

Fulgent Genetics
United States
18282
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Late-Onset Ataxia NGS Panel

Fulgent Genetics
United States
13356
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia NGS Panel

Fulgent Genetics
United States
533149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes

Reference Laboratory Genetics
Spain
1111
  • C Sequence analysis of the entire coding region

Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes

Reference Laboratory Genetics
Spain
4034
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
233234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies

Athena Diagnostics Inc
United States
8084
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

JUVENILE MYOCLONIC EPILEPSY

Laboratorio de Genetica Clinica SL
Spain
46
  • C Sequence analysis of the entire coding region

Ataxia, Complete Dominant Evaluation

Athena Diagnostics Inc
United States
3125
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 31

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.