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

 

OMIM

GeneLocusProtein
HMGCS21p12Hydroxymethylglutaryl-CoA synthase, mitochondrial
Test Type
Molecular (8)
Multi-Gene Panel (4)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (4)
Prenatal/Carrier
Carrier (2)
Lab Location
USA(5)
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 (121 Nuclear Genes) Sequencing
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders (121 Nuclear Genes by Sequencing, 119 Nuclear Genes by Deletion/Duplication)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, 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: 3-4 weeks
price: contact lab
Mitochondrial Disorders (mtDNA and 119 Nuclear Genes) Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
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