3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

Synonym(s): 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, HMG-CoA Lyase Deficiency

 

OMIM

GeneLocusProtein
HMGCL1p36.11Mutant 3-hydroxymethyl-3-methylglutaryl-CoA lyase, transcript variant 1
Test Type
Biochemical (10)
Molecular (40)
Multi-Gene Panel (17)
Multi-Method Panel (14)
Test Method
Qualitative Biochemical Analysis (9)
Del/Dup (CNV) (21)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Quantitative Biochemical Analysis (2)
Sequencing, Capillary (Sanger) (15)
Genotyping (Microarray, Beads, etc.) (2)
Repeat Expansion / Contraction (2)
Uniparental Disomy (1)
Sequencing, Next Gen (16)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (13)
Carrier (27)
Lab Location
USA(42)
Czech Republic(1)
Portugal(1)
Germany(2)
Canada(3)
Spain(1)


Test
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis ◦ Quantitative Biochemical Analysis 
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Denver Genetic Laboratories - Biochemical Genetics at Children's Hospital Colorado - Aurora, CO, USA
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
TAT: 1 week
price: contact lab
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Quantitative Biochemical Analysis 
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA
3-Hydroxy-3-methylglutaryl-CoA lyase (HMGCL) deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
TAT: 11-12 weeks
price: contact lab
HMGCL 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
HMGCL Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
HMGCL Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
HMGCL Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
HMGCL Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
HMGCL 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
HMGCL Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 2-3 weeks
price: contact lab
HMGCL Exon 2 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
HMGCL Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
HMGCL Remaining Exons Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 4 weeks
price: contact lab
HMGCL 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: 7-10 days
price: contact lab
HMG-CoA Lyase Deficiency
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, 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-coenzyme A lyase deficiency (sequence analysis of HMGCL gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
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
3-Hydroxy-3-Methylglutaryl-CoA-Lyase Deficiency (HMGCL)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
3-Hydroxy-3-Methylglutaryl CoA Lyase (HMG) Deficiency: HMGCL Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
3-Hydroxy-3-Methylglutaryl CoA Lyase (HMG) Deficiency: HMGCL Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
HMG-CoA Lyase Deficiency (HMGCL)
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 2-4 weeks
price: contact lab
Ketone Body Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 5 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 137 (Pan-Ethnic Intermediate Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 3-4 weeks
price: $690.00
3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $680.00
3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
HMG-coA Liase Deficiency, Sequencing HMGCL Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-5 weeks
price: $1,690.00
Metabolic Hypoglycemia Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Metabolic Hypoglycemia Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1 week
price: contact lab
HMG-CoA Lyase Deficiency: Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1-3 weeks
price: $1,500.00
Invitae Urea Cycle Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
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 Fatty Acid Oxidation Defects 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