UMOD

OMIMHGNC

Locus: 16p12.3

Protein: Uromodulin

 

Disorders

Tests

Test
TAT: 4-6 weeks
price: contact lab
Ciliopathies NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 8-9 weeks
price: contact lab
Ciliopathies: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 1-2 weeks
price: contact lab
Medullary Cystic Kidney Disease 2 , UMOD
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Institut fur Laboratoriumsmedizin Berlin (IFLb) - Berlin, Germany
TAT: 4-5 weeks
price: contact lab
Medullary Cystic Kidney Disease 2: UMOD Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Medullary Cystic Kidney Disease 2: UMOD Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Medullary Cystic Kidney Disease Type 2
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 4-5 weeks
price: contact lab
Sanger sequencing of exons 3,4,5 and 7 of the UMOD gene
method(s): ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the UMOD gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-4 weeks
price: contact lab
UMOD Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
UMOD-related hyperuricemia test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of