3-Methylglutaconic Aciduria Type 1

Synonym(s): 3-Methylglutaconyl-CoA Hydratase Deficiency

 

OMIM

GeneLocusProtein
AUH9q22.31Methylglutaconyl-CoA hydratase, mitochondrial
Test Type
Biochemical (13)
Molecular (28)
Multi-Gene Panel (13)
Multi-Method Panel (13)
Test Method
Qualitative Biochemical Analysis (12)
Del/Dup (CNV) (13)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Quantitative Biochemical Analysis (3)
Sequencing, Capillary (Sanger) (12)
Uniparental Disomy (1)
Sequencing, Next Gen (13)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (11)
Carrier (14)
Lab Location
USA(31)
Netherlands(3)
Spain(1)
Korea, Republic of(1)
Germany(3)
Portugal(1)
Canada(1)


Test
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis ◦ Quantitative Biochemical Analysis 
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
Denver Genetic Laboratories - Biochemical Genetics at Children's Hospital Colorado - Aurora, CO, USA
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Academic Medical Center at the University of Amsterdam, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
Academic Medical Center at the University of Amsterdam, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
Academic Medical Center at the University of Amsterdam, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
TAT: 1 week
price: contact lab
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Quantitative Biochemical Analysis 
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
EGL Genetic Diagnostics, Biochemical Genetics Laboratory - Tucker, GA, USA
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 7-10 days
price: contact lab
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis ◦ Quantitative Biochemical Analysis 
Kennedy Krieger Institute, Biochemical Genetics Laboratory - Baltimore, MD, USA
3-Methylglutaconic Aciduria Type 1 Test
method(s): ◦ Qualitative Biochemical Analysis 
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA
3-Methylglutaconic aciduria type 1 test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 4-5 weeks
price: contact lab
AUH Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
AUH Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
AUH Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
AUH Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
AUH 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
AUH Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
AUH Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Comprehensive Mitochondrial Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Methylglutaconic Aciduria Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, 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: 4-6 weeks
price: contact lab
Hereditary Degenerative Syndromes Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Dystonia All Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
3-methylglutaconic aciduria type I (sequence analysis of AUH gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: $690.00
3-Methylglutaconic Aciduria Type I via the AUH Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Optic Atrophy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $710.00
3-Methylglutaconic Aciduria Type I via the AUH Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,590.00
Optic Atrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
3-methylglutaconic aciduria type 1
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
3-methylglutaconic aciduria type I (MCGA1): Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Mitochondrial Nuclear Gene Panel by Next Generation Sequencing (NGS)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, 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
TAT: 1-3 weeks
price: $1,500.00
Invitae 3-Methylglutaconic Aciduria 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 Treatable Neurometabolic Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 8-10 weeks
price: contact lab
Optic Atrophy and Early Glaucoma Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA