2,4-Dienoyl-CoA Reductase Deficiency

 

OMIM

GeneLocusProtein
DECR18q21.32,4-dienoyl-CoA reductase, mitochondrial
Test Type
Biochemical (2)
Molecular (10)
Multi-Gene Panel (3)
Multi-Method Panel (5)
Test Method
Qualitative Biochemical Analysis (2)
Del/Dup (CNV) (5)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (6)
Uniparental Disomy (1)
Sequencing, Next Gen (3)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (1)
Carrier (4)
Lab Location
USA(10)
Portugal(1)
Germany(1)


Test
2,4-Dienoyl-CoA Reductase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Denver Genetic Laboratories - Biochemical Genetics at Children's Hospital Colorado - Aurora, CO, USA
2,4-Dienoyl-CoA Reductase Deficiency Test
method(s): ◦ Qualitative Biochemical Analysis 
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA
TAT: 4-5 weeks
price: contact lab
DECR1 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
DECR1 Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
DECR1 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
DECR1 Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
DECR1 Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, 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
CoA-2 4-dienoyl reductase 1 deficiency (sequence analysis of DECR1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: ~2 weeks
price: contact lab
CoA-2 4-dienoyl reductase 1 deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
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