3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency

Synonym(s): HADH Deficiency, M/SCHAD, Medium/Short-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Short Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Liver

 

OMIM

GeneLocusProtein
HADH4q25Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
Test Type
Biochemical (4)
Molecular (24)
Multi-Gene Panel (8)
Multi-Method Panel (9)
Test Method
Qualitative Biochemical Analysis (4)
Del/Dup (CNV) (10)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Quantitative Biochemical Analysis (1)
Sequencing, Capillary (Sanger) (9)
Uniparental Disomy (1)
Sequencing, Next Gen (12)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (7)
Carrier (14)
Lab Location
USA(19)
Slovakia(1)
Austria(1)
Sweden(2)
Germany(4)
Canada(1)


Test
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis ◦ Quantitative Biochemical Analysis 
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medgene, MedGene - Bratislava, Slovakia
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Praxis fuer Humangenetik Wien - Vienna, Austria
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA
TAT: 11-12 weeks
price: contact lab
HADH 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
HADH Gene Sequencing by NGS
method(s): ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
HADH Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 4-5 weeks
price: contact lab
HADH Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
HADH Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4 weeks
price: contact lab
HADH 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: 10-12 weeks
price: contact lab
Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, 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
TAT: 3-5 weeks
price: contact lab
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
HADH
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-4 weeks
price: $690.00
3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH 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
3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
CoA-3-hydroxyacyl dehydrogenase deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1 week
price: contact lab
3-hydroxyacyl-CoA dehydrogenase deficiency: Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-6 weeks
price: contact lab
Familial Hyperinsulinism NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
HADH Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Elevated C4-OH Test
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 Fatty Acid Oxidation Defects Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA