3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

 

OMIM

GeneLocusProtein
HMGCS21p12Hydroxymethylglutaryl-CoA synthase, mitochondrial
Test Type
Molecular (9)
Multi-Gene Panel (5)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (6)
Prenatal/Carrier
Prenatal (2)
Carrier (6)
Lab Location
USA(6)
Germany(2)
Spain(1)


Test
HMGCS2 Gene Sequencing by NGS
method(s): ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, 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
3-Hydroxy-3-Methylglutaryl-CoA-Synthase-2 Deficiency (HMGCS2)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
HMG-CoA Sinthase Deficiency, Sequencing HMGCS2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-5 weeks
price: $1,690.00
Hyperammonemia Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Treatable Neurometabolic Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Ketogenesis Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 3-5 weeks
price: $1,440.00
Disorders of Fatty Acid Oxidation Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA