17-Beta-Hydroxysteroid Dehydrogenase X Deficiency

Synonym(s): 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency, HSD 10 Deficiency, HSD10 Deficiency, HSD17B10 Deficiency

 

OMIM

GeneLocusProtein
HSD17B10Xp11.223-hydroxyacyl-CoA dehydrogenase type-2
Test Type
Biochemical (3)
Molecular (23)
Multi-Gene Panel (7)
Multi-Method Panel (7)
Test Method
Qualitative Biochemical Analysis (3)
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (10)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (11)
Sequencing, Next Gen (7)
Prenatal/Carrier
Prenatal (9)
Carrier (16)
Lab Location
Netherlands(3)
USA(17)
Germany(3)
Canada(3)


Test
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency Test
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Academic Medical Center at the University of Amsterdam, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Academic Medical Center at the University of Amsterdam, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Academic Medical Center at the University of Amsterdam, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA
TAT: 11-12 weeks
price: contact lab
HSD17B10 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 12-13 weeks
price: contact lab
MetaboSeq Fatty Acid Oxidation Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-5 weeks
price: contact lab
HSD17B10 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
HSD17B10 Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
HSD17B10 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
HSD17B10 Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
HSD17B10 Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
HSD17B10 Del/Dup (Females)
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
HSD17B10 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 4 weeks
price: contact lab
HSD17B10 deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
MetaboSeq Fatty Acid Oxidation Disorders Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 3-4 weeks
price: contact lab
X Chromosome Ultra-High Density Microarray
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
X-Linked Intellectual Disability Panel, Sequencing, 76 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency (HSD17B10)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
HSD17B10-related Disorders: HSD17B10 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
HSD17B10-related Disorders: HSD17B10 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-4 weeks
price: contact lab
Single gene testing HSD17B10
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 1 week
price: contact lab
17-beta-hydroxysteroid dehydrogenase X deficiency: Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: ~2 weeks
price: contact lab
17-beta hydroxysteroid dehydrogenase X deficiency
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Elevated C5-OH Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Metabolic Disorders Newborn Screening Confirmation Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Organic Acidemias Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA