DUX4

OMIMHGNC

Locus: 4q35.2

Protein: DUX4

 

Disorders

Tests

Test Type
Molecular (8)
Multi-Gene Panel (1)
Test Method
Del/Dup (CNV) (1)
Repeat Expansion / Contraction (5)
Sequencing, Next Gen (2)
Prenatal/Carrier
Prenatal (1)
Carrier (5)
Lab Location
Spain(2)
Portugal(1)
Canada(1)
Kuwait(1)
United Kingdom(3)
 
Facioscapulohumeral Muscular Dystrophy Test
method(s): ◦ Repeat Expansion / Contraction 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
TAT: 3-4 weeks
price: contact lab
Facioscapula humeral dystrophy (FSHD)
method(s): ◦ Sequencing, Next Gen 
Genatak - Kuwait City, Kuwait
TAT: 8-9 weeks
price: contact lab
Facioscapulohumeral Muscular Dystrophy (FSHD1) level 1
method(s): ◦ Repeat Expansion / Contraction 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 8-9 weeks
price: contact lab
Facioscapulohumeral Muscular Dystrophy (FSHD1) level 2
method(s): ◦ Repeat Expansion / Contraction 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 8-9 weeks
price: contact lab
Facioscapulohumeral Muscular Dystrophy (FSHD1) level 3
method(s): ◦ Repeat Expansion / Contraction 
Bristol Genetics Laboratory - Bristol, United Kingdom
Facioscapulohumeral Dystrophy , Deletion D4Z4 Region DUX4 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Facioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 6-8 weeks
price: contact lab
Facioscapulohumeral muscular dystrophy
method(s): ◦ Repeat Expansion / Contraction 
Biodonostia Health Research Institute - San Sebastian, Spain