KHK

OMIMHGNC

Locus: 2p23.3

Protein: Ketohexokinase

 

Disorders

Tests

Test Type
Molecular (6)
Multi-Gene Panel (2)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (3)
Prenatal/Carrier
Carrier (1)
Lab Location
Germany(2)
Portugal(1)
USA(3)
 
TAT: 3-4 weeks
price: contact lab
KHK Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Fructosuria essential (sequence analysis of KHK gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Carbohydrate Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 64 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 343 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
KHK
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Fructosuria essential
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany