EBP

Synonym(s): CPX, CPXD, CHO2, CDPX2

Locus: Xp11.23

Protein: 3-beta-hydroxysteroid-Delta

Disorders

Chondrodysplasia Punctata 2, X-Linked

Tests


TAT: 8-10 weeks price: contact lab NGS X-Linked Intellectual Disability (XLID) Panel (114 genes) method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 4-8 weeks price: contact lab Chondrodysplasia Punctata 1, X-Linked Test method(s): ◦ Sequencing, Capillary (Sanger) Exeter Molecular Genetics, Royal Devon & Exeter Hospital - Exeter, United Kingdom
TAT: contact lab price: contact lab Chondrodysplasia Punctata 2, X-Linked Test method(s): ◦ Sequencing, Capillary (Sanger) bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 2-3 weeks price: $1,150.00 Skeletal Dysplasia extended NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $1,300.00 Skeletal Dysplasia core and extended NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 7-8 weeks price: contact lab NGS of 7 genes: AGPS, ARSE, EBP, GNPAT, IMPAD1, LBR, PEX7. method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4 weeks price: contact lab EBP sequencing method(s): ◦ Sequencing, Capillary (Sanger) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks price: contact lab EBP deletion/duplication method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks price: contact lab devSEEK Sequence Analysis for Neurodevelopment Disorders, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 10 weeks price: contact lab Congenital Ichthyosis XomeDxSlice method(s): ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA
TAT: 2-4 weeks price: $1,840.00 Skeletal Dysplasia core and extended NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks price: $1,490.00 Skeletal Dysplasia extended NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: contact lab price: contact lab X-Linked Chondrodysplasia Punctata Type 2, Sequencing EBP Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab price: contact lab Skin Diseases Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: contact lab price: contact lab Congenital Ichthyosis, Panel Massive Sequencing (NGS) 33 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab price: contact lab Chondrodysplasia punctata, X-linked dominant (sequence analysis of EBP gen) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal
TAT: 2-4 weeks price: $1,490.00 Skeletal Dysplasia Extended NGS Panel Comprehensive Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks price: $1,370.00 Chondrodysplasia punctata and related disorders NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $990.00 Chondrodysplasia punctata and related disorders NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $990.00 Chondrodysplasia Punctata 2, X-linked Dominant (CDPX2) method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $680.00 Chondrodysplasia Punctata 2, X-linked Dominant (CDPX2) method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks price: contact lab Ichthyoses and Related Disorders of Cornification Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: contact lab price: contact lab Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: contact lab price: contact lab Skeletal dysplasia (NGS panel for 31 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: 2-4 weeks price: $2,210.00 Chondrodysplasia punctata and related disorders NGS panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $1,570.00 Chondrodysplasia Punctata 2, X-linked Dominant (CDPX2) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks price: contact lab Chondrodysplasia punctata Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks price: contact lab Potentially lethal skeletal disorders Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Skeletal Dysplasias, Panel Massive Sequencing (NGS) 36 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab price: contact lab Chondrodysplasia Punctata, Panel Massive Sequencing (NGS) 7 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks price: contact lab Comprehensive Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 502 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 734 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Peroxisomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 32 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks price: contact lab EBP method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks price: contact lab Intellectual Disability NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks price: contact lab XLID NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks price: $2,990.00 Skeletal Dysplasia core and extended NGS panel Comprehensive Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks price: $690.00 Conradi-Hunermann syndrome via the EBP Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks price: $560.00 Conradi-Hunermann syndrome via the EBP Gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: contact lab price: contact lab Chondrodysplasia punctata (Chondrodysplasia punctata) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 3-4 weeks price: contact lab Chondrodysplasia punctata, X-linked dominant method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks price: contact lab Ichthyosis extended panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks price: contact lab Skeletal dysplasia extended panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks price: contact lab X-linked Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 103 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Hydrocephalus (NextGen Sequencing Panel and Copy Number Analysis; 68 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 3-4 weeks price: contact lab Chondrodysplasia Punctata Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Ichthyosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Comprehensive Skeletal Dysplasias and Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Skeletal Dysplasias Core Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Chondrodysplasia Punctata Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Ichthyosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Comprehensive Skeletal Dysplasias and Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Skeletal Dysplasias Core Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA

GeneTests

EBP

Disorders

Tests

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Test Type

Test Method

Prenatal/Carrier

Lab Location