JRK

OMIMHGNC

Synonym(s): JH8, jerky

Locus: 8q24.3

Protein: Alternative protein JRK

Tests

Test Type
Molecular (7)
Multi-Gene Panel (5)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (2)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (6)
Prenatal/Carrier
Prenatal (3)
Carrier (1)
Lab Location
USA(2)
Germany(3)
Spain(2)
 
Familial Epilepsy and Related Disorders, Panel Massive Sequencing (NGS) 35 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Epilepsy Hereditary Panel
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-5 Weeks
price: contact lab
JRK
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Epilepsy, childhood absence, JRK related
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
Comprehensive epilepsy panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Epilepsy (absence) in childhood panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany