17-Beta Hydroxysteroid Dehydrogenase III Deficiency

 

OMIM

GeneLocusProtein
HSD17B39q22.32Hydroxysteroid
Test Type
Molecular (12)
Multi-Gene Panel (3)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (7)
Genotyping (Microarray, Beads, etc.) (1)
Uniparental Disomy (1)
Sequencing, Next Gen (3)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (5)
Carrier (8)
Lab Location
USA(7)
United Kingdom(1)
Sweden(1)
Germany(2)
Portugal(1)


Test
17-beta Hydroxysteroid Dehydrogenase III Deficiency (HSD17B3) Test
method(s): ◦ Sequencing, Capillary (Sanger) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
17-beta Hydroxysteroid Dehydrogenase III Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
UCL Hospitals, Clinical Biochemistry Laboratory - London, United Kingdom
17-beta Hydroxysteroid Dehydrogenase III Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
17-beta Hydroxysteroid Dehydrogenase III Deficiency
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 7-10 days
price: contact lab
17-Beta-Hydroxysteroid Dehydrogenase Type III Deficiency
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 2-3 days
price: contact lab
Baby Genes Newborn Screening Panel
method(s): ◦ Chromosome Analysis ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
Baby Genes Inc - Golden, CO, USA
Pseudohermaphroditism with gynecomastia (sequence analysis of HSD17B3 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 8-9 weeks
price: contact lab
Abnormal/Ambiguous Genitalia Sequencing Test
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-4 weeks
price: $690.00
46,XY Disorder of Sex Development (DSD) via the HSD17B3 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $780.00
46,XY Disorder of Sex Development (DSD) via the HSD17B3 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Pseudohermaphroditism with gynecomastia
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany