HGD

OMIMHGNC

Synonym(s): HGO, AKU

Locus: 3q13.33

Protein: Homogentisate 1,2-dioxygenase

 

Disorders

Tests

Test Type
Molecular (14)
Multi-Gene Panel (5)
Multi-Method Panel (5)
Test Method
Del/Dup (CNV) (4)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (5)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (2)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (4)
Carrier (9)
Lab Location
Portugal(1)
USA(8)
Spain(1)
Turkey(1)
Germany(3)
 
TAT: 7-10 days
price: contact lab
Alkaptonuria
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
Alkaptonuria (sequence analysis of HGD gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Alkaptonuria
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 4-5 Weeks
price: contact lab
HGD
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: $910.00
Alkaptonuria via the HGD Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Alkaptonuria, Sequencing HGD Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Alkaptonuria
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Family Prep Screen
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Counsyl, Inc., Counsyl - South San Francisco, CA, USA
TAT: 2-4 weeks
price: contact lab
Pan-European Carrier Screening
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Alkaptonuria Test
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: ~2 weeks
price: $590.00
FamilyReady Carrier Screen (204 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA