ABCD4

OMIMHGNC

Synonym(s): PMP69, P70R, EST352188, PXMP1L

Locus: 14q24.3

Protein: ATP-binding cassette sub-family D member 4

 

Disorders

Tests

Test Type
Biochemical (1)
Molecular (25)
Multi-Gene Panel (13)
Multi-Method Panel (8)
Test Method
Del/Dup (CNV) (6)
Quantitative Biochemical Analysis (1)
Sequencing, Capillary (Sanger) (9)
Sequencing, Next Gen (18)
Prenatal/Carrier
Prenatal (7)
Carrier (13)
Lab Location
USA(11)
Spain(2)
Portugal(2)
Germany(2)
Poland(1)
Canada(5)
Finland(2)
 
TAT: 4-5 weeks
price: contact lab
ABCD4 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
ABCD4 Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
ABCD4 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
ABCD4 Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
ABCD4 Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-6 weeks
price: contact lab
devACT Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Research Institute of the McGill University Health Center, Braverman Labroatory
method(s): ◦ Quantitative Biochemical Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Research Institute of the McGill University Health Center, Braverman Laboratory - Montreal, Canada
Methylmalonic Acidemia with Homocystinuria Type CbIJ, Sequencing ABCD4 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Methylmalonic Acidemia with Homocystinuria Types cblJ,cbIC,cbIF,cbID , Panel Massive Sequencing (NGS) ABCD4,MMADHC,MMACHC,LMBRD1 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Methylmalonic aciduria cbIJ type (sequence analysis of ABCD4 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Methylmalonic aciduria (NGS panel for 15 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
ABCD4
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Metabolism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Organic Acidemia/Aciduria and Cobalamin Deficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-5 weeks
price: $990.00
Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Methylmalonic Aciduria and Homocystinuria Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: contact lab
Methylmalonic aciduria CblJ type
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1 week
price: contact lab
CEN4GEN rapid carrier screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
CEN4GEN rapid diagnostic screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
CEN4GEN rapid supplemental newborn screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
cblJ Type Methylmalonic aciduria and homocystinuria: Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-3 weeks
price: contact lab
ABCD4 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany