RNF213

OMIMHGNC

Synonym(s): KIAA1554, NET57, C17orf27, KIAA1618, MYMY2

Locus: 17q25.3

Protein: E3 ubiquitin-protein ligase RNF213

 

Disorders

Tests

Test Type
Molecular (8)
Multi-Gene Panel (2)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (6)
Sequencing, Next Gen (3)
Prenatal/Carrier
Carrier (3)
Lab Location
Poland(1)
Spain(2)
Portugal(2)
USA(2)
Germany(1)
 
Moyamoya Disease 2 Test (the RNF213 gene - the most common mutations: p.R4810K)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Moyamoya Disease Type 2, Sequencing RNF213 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Moyamoya disease (sequence analysis of RNF213 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 46 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
RNF213
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-8 weeks
price: contact lab
Moyamoya disease: RNF213 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
Moyamoya Disease, Panel Massive Sequencing (NGS) ACTA2, RNF213 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Moyamoya disease type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany