POFUT1

OMIMHGNC

Synonym(s): O-FUT, O-Fuc-T, KIAA0180, FUT12

Locus: 20q11.21

Protein: GDP-fucose protein O-fucosyltransferase 1

 

Disorders

Tests

Test Type
Molecular (5)
Multi-Gene Panel (3)
Multi-Method Panel (1)
Test Method
Del/Dup (CNV) (1)
Sequencing, Capillary (Sanger) (2)
Sequencing, Next Gen (4)
Prenatal/Carrier
Carrier (3)
Lab Location
Spain(2)
USA(1)
Germany(1)
Austria(1)
 
TAT: 4-6 weeks
price: contact lab
Genetic Disorders with Abnormal Pigmentation Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Dowling-Degos Disease Type 2, Sequencing POFUT1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Dowling-Degos Disease, Panel Massive Sequencing (NGS) 6 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
POFUT1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Dyschromatosis (Dyschromatosis)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria