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Results: 1 to 20 of 53

Tests names and labsConditionsGenes, analytes, and microbesMethods

Detection by FISH of 1p3 6 deletion

CGC Genetics Unilabs
Portugal
11
  • F Fluorescence in situ hybridization (FISH)

EFHC1 Gene Epilepsy, juvenile absence type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

EFHC1 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy exome

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy, juvenile absence, susceptibility to, 1, 607631, Autosomal dominant; EJA1 (Juvenile absence epilepsy) (EFHC1 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

Myoclonic epilepsy, juvenile, susceptibility to, 1, 254770, Autosomal dominant; EJM (Juvenile myoclonic epilepsy) (EFHC1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Myoclonic epilepsy, juvenile, susceptibility to, 1, 254770, Autosomal dominant; EJM (Juvenile myoclonic epilepsy) (EFHC1 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci)

Variantyx, Inc.
United States
1378
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Epilepsy panel_v.2.0

CGC Genetics Unilabs
Portugal
1759
  • C Sequence analysis of the entire coding region

Myoclonic epilepsy, juvenile (sequence analysis of EFHC1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

EPILEPSY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1696
  • E Sequence analysis of select exons

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

Genologica Medica
Spain
7434
  • 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

Epilepsy Gene Panel

Duzen Laboratories Duzen BBAGUAS
Turkey
1145
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 53

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.