ELN

Synonym(s): WBS, WS, SVAS

Locus: 7q11.23

Protein: Elastin

Disorders

Tests


TAT: contact lab price: contact lab FISH-Williams Syndrome method(s): ◦ FISH-Metaphase Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2-3 weeks price: $1,570.00 Cutis laxa, autosomal dominant 1 (ADCL1) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $680.00 Cutis laxa, autosomal dominant 1 (ADCL1) method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks price: $2,130.00 Cutis laxa NGS panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $990.00 Cutis laxa NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $1,570.00 Supravalvular aortic stenosis (SVAS) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $680.00 Supravalvular aortic stenosis (SVAS) method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 12-13 weeks price: contact lab Pulmonary Disease: Comprehensive Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks price: contact lab Cystic Lung Disease: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks price: contact lab Connective Tissue Disorders: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 7-8 weeks price: contact lab NGS and Sanger Sequencing of the ELN gene method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks price: contact lab NGS of 5 genes: EFEMP2, ELN, FBLN5, LTBP4, PYCR1 method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks price: contact lab NGS of 19 genes: ACTC1, BMPR2, CFC1, ELN, G6PC3, GATA4, GATA6, GDF1, GJA1, HCN4, JAG1, MYH6, NKX2-3, NKX2-5, NKX2-6, RBM10, TBX1, TBX20, TLL1 method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: contact lab price: contact lab Supravalvular Aortic Stenosis method(s): Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: contact lab price: contact lab Cutis Laxa method(s): Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: contact lab price: contact lab Ehlers Danlos syndrome method(s): ◦ Sequencing, Next Gen Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 3-5 weeks price: contact lab nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-4 weeks price: contact lab ELN FISH method(s): ◦ FISH-Metaphase ◦ FISH-Interphase GeneDx - Gaithersburg, MD, USA
TAT: 6-8 weeks price: contact lab ELN Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks price: contact lab Congenital Heart Defects (7 Gene) Panel method(s): ◦ Sequencing, Next Gen All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
TAT: 2-4 weeks price: $1,290.00 Cutis laxa NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $990.00 Supravalvular aortic stenosis (SVAS) method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $990.00 Cutis laxa, autosomal dominant 1 (ADCL1) method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: contact lab price: contact lab Autosomal Dominant Cutis Laxa, Deletions-Duplications (MLPA) ELN Gene method(s): ◦ Del/Dup (CNV) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab price: contact lab Autosomal Dominant Cutis Laxa, Sequencing ELN 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 Connective Tissue 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 Cardiac 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 Mitochondrial Disorders Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 8-10 weeks price: contact lab NGS Connective Tissue Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 6-8 weeks price: contact lab PulmoGene Panel (64 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 6-8 weeks price: contact lab Cystic Lung Disease Panel (8 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 4-6 weeks price: contact lab Connective tissue diseases: Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks price: contact lab Congenital Heart Defects Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Supravalvar aortic stenosis (sequence analysis of ELN gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal
TAT: contact lab price: contact lab ELN-related Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab ELN-related Disorders: ELN Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-10 weeks price: contact lab NGS Aortic Dysfunction and Dilation and Related Disorders Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: contact lab price: contact lab Pulmonary Disease: Comprehensive Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Pulmonary Disease: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Connective Tissue Disorders: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Connective Tissue Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Cystic Lung Disease: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Cystic Lung Disease: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Cardiovascular disease panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 8-10 weeks price: contact lab Thoracic Aortic Aneurysms and Aortic Dissections panel method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: contact lab price: contact lab Pulmonary Disease: Comprehensive Sequencing Extended Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Autosomal Dominant and Recessive Cutis Laxa, Panel Massive Sequencing (NGS) 13 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks price: contact lab Congenital Heart Defects (NextGen Sequencing Panel and Copy Number Analysis; 77 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 46 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-6 Weeks price: contact lab Connective Tissue 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 Cystic Lung Disease NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks price: contact lab ELN method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks price: contact lab Lung Disorders 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 Nuclear-Mito NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks price: $1,150.00 Congenital heart disease NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks price: $1,500.00 Congenital heart disease NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks price: $2,500.00 Congenital heart disease NGS panel Comprehensive Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: contact lab price: contact lab Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (NGS panel of 44 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: 3-4 weeks price: $690.00 Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks price: $990.00 Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: contact lab price: contact lab Cardiac defect, developmental (Herzentwicklungsstörungen) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 2-3 weeks price: contact lab Congenital Heart Disease NGS Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks price: contact lab Cutis laxa, autosomal dominant method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks price: contact lab Supravalvar aortic stenosis method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 10 weeks price: contact lab ELN - Gene Sequencing and CNV analysis method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 6-7 weeks price: contact lab ELN - CNV analysis method(s): ◦ Del/Dup (CNV) VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 16-20 weeks price: contact lab NGS panel - Aortic or arterial dilatation / dissection method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 16-20 weeks price: contact lab NGS panel - Cutis laxa method(s): ◦ Sequencing, Next Gen VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 4-6 weeks price: contact lab Cystic Lung Disease Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-5 weeks price: contact lab Cutis laxa panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 16-20 weeks price: contact lab General Aortopathy - 20 gene NGS panel method(s): ◦ Sequencing, Next Gen Clinical Genetics & Genomics Laboratory - London, United Kingdom
TAT: 16-20 weeks price: contact lab Familial Aortic Aneurysm (FAA) - 16 gene NGS panel method(s): ◦ Sequencing, Next Gen Clinical Genetics & Genomics Laboratory - London, United Kingdom
TAT: 4-5 weeks price: contact lab Ehlers-Danlos syndrome and related disorders panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks price: $1,500.00 Invitae Congenital Heart Defects and Heterotaxy Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
TAT: 1-3 weeks price: $1,500.00 Invitae Congenital Heart Disease Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
TAT: 4-6 weeks price: contact lab Connective Tissue Focus Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-5 weeks price: $2,400.00 Comprehensive Cardiology 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 Comprehensive Cardiology Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks price: contact lab Aorta 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 Cutis Laxa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Cystic Lung Disease Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Comprehensive Pulmonology Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Congenital Structural Heart Disease Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Ehlers-Danlos Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Aorta 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 Cutis Laxa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Cystic Lung Disease 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 Pulmonology Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Congenital Structural Heart Disease Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Ehlers-Danlos Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA

GeneTests

ELN

Disorders

Tests

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Prenatal/Carrier

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