TGFBR1

OMIMHGNC

Synonym(s): ALK-5, ACVRLK4, ALK5, MSSE, ESS1

Locus: 9q22.33

Protein: Mutant transforming growth factor beta receptor I

 

Disorders

Tests

Test Type
Molecular (163)
Multi-Gene Panel (131)
Multi-Method Panel (55)
Test Method
Del/Dup (CNV) (72)
Mutation Scanning of Entire Coding Region (10)
Sequencing, Capillary (Sanger) (49)
Sequencing, Next Gen (102)
Prenatal/Carrier
Prenatal (74)
Carrier (56)
Lab Location
Spain(17)
USA(80)
Korea, Republic of(1)
Germany(14)
Netherlands(2)
United Kingdom(8)
Poland(9)
Portugal(9)
Bulgaria(2)
Finland(6)
Estonia(1)
Czech Republic(1)
Canada(12)
Austria(2)
 
TAT: 4-6 weeks
price: contact lab
Marfan Syndrome and MFS Related Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
TAT: 1-3 weeks
price: contact lab
Marfan Syndrome/ Loeys-Dietz Syndrome/ Familial Thoracic Aortic Aneurysms and Dissections Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
Collagen Diagnostic Laboratory - Seattle, WA, USA
Marfan Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
Marfan Syndrome Test
method(s): ◦ Del/Dup (CNV) 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
TGFBR1-Related Thoracic Aortic Aneurysms and Aortic Dissections
method(s): ◦ Sequencing, Capillary (Sanger) 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
TGFBR1-related disorder test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Loeys-Dietz Syndrome Test (the TGFBR1 and TGFBR2 genes-selected fragments/the most common mutations)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Loeys-Dietz Syndrome Test (the TGFBR1 gene-selected fragments/the most common mutations)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Loeys-Dietz Syndrome Test (the TGFBR1 gene-selected fragments/the most common mutations in exon 5,7,9)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Loeys-Dietz Syndrome Test (the TGFBR1 gene-selected fragments/the most common mutations in exon 6 and 8)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 6-8 weeks
price: contact lab
Craniofacial Panel Plus MLPA (19 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 6-8 weeks
price: contact lab
Craniofacial Panel (19 genes)
method(s): ◦ Sequencing, Next Gen 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 2-3 weeks
price: $1,180.00
Aortic aneurysm, familial thoracic 5 (AAT5) Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Aortic aneurysm, familial thoracic 5 (AAT5)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,550.00
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3) Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $750.00
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,550.00
Loeys-Dietz syndrome 1 / 2 (LDS1 / LDS2)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $750.00
Loeys-Dietz syndrome 1 / 2 (LDS1 / LDS2)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,180.00
Loeys-Dietz syndrome 1 (LDS1)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Loeys-Dietz syndrome 1 (LDS1)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,840.00
Loeys-Dietz syndrome NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $990.00
Loeys-Dietz syndrome NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: $2,130.00
Marfan syndrome and Loeys-Dietz syndrome 1 / 2 NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $990.00
Marfan syndrome and Loeys-Dietz syndrome 1 / 2 NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,300.00
Marfan Syndrome, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysms and Dissections, and Related Disorders NGS Panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
Loeys-Dietz Syndrome, type 1A and 2A (TGFBR1)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
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
Loeys-Dietz Syndrome (types 1 and 2)
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the TGFBR1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 13 genes: ACTA2, COL3A1, EFEMP2, FBLN5, FBN1, FBN2, MYH11, MYLK, NOTCH1, SLC2A10, SMAD3, TGFBR1, TGFBR2
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 13 genes: ACTA2, COL3A1, EFEMP2, FBLN5, FBN1, FBN2, MYH11, MYLK, NOTCH1, SLC2A10, SMAD3, TGFBR1, TGFBR2 and Detection of large deletions and/or duplications in the COL3A1, FBN1, TGFBR1 and TGFBR2 genes by MLPA
method(s): ◦ Del/Dup (CNV) ◦ 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 6 genes: COL3A1, FBN1, FBN2, SMAD3, TGFBR1, TGFBR2
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 6 genes: COL3A1, FBN1, FBN2, SMAD3, TGFBR1, TGFBR2. And detection of large deletions and/or duplications in the COL3A1, FBN1, TGFBR1 and TGFBR2 genes by MLPA
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 13-15 weeks
price: contact lab
NGS of 154 genes, ABCA1, ABCC6, ABCC9, ACTA2, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, KCNQ2, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, LPL, LRP6, MAP2K1, MAP2K2, MEF2A..
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 6 genes: EFEMP2, FBLN5, SLC2A10, SMAD3, TGFBR1, TGFBR2
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 3 genes: SMAD3, TGFBR1, TGFBR2
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 of3 genes: SMAD3, TGFBR1, TGFBR2 and Detection of large deletions and/ or duplication in genes TGFBR1, TGFBR2 by MLPA
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Marfan Syndrome|Loeys-Dietz Syndrome|Familial Thoracic Aortic Aneurysms and Dissections
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 2-4 weeks
price: contact lab
TGFBR1 Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 8-9 weeks
price: contact lab
Loeys-Dietz Syndrome Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 10-12 weeks
price: contact lab
Marfan Syndrome/TAAD Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
Marfan Syndrome/TAAD Del/Dup Panel
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 5-6 weeks
price: contact lab
TGFBR1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
Aortic Aneurysym and Dissection Test (the TGFBR1 and TGFBR2 genes - selected fragments/the most common mutations)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 2-4 weeks
price: $2,640.00
Marfan Syndrome, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysms and Dissections, and Related Disorders NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,490.00
Marfan Syndrome, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysms and Dissections, and Related Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Aortic aneurysm, familial thoracic 5 (AAT5)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: $900.00
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,180.00
Multiple self-healing squamous epithelioma (MSSE)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Multiple self-healing squamous epithelioma (MSSE)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: $900.00
Loeys-Dietz syndrome 1 / 2 (LDS1 / LDS2)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,000.00
Loeys-Dietz syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: $1,290.00
Marfan syndrome and Loeys-Dietz syndrome 1 / 2 NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: $600.00
Multiple self-healing squamous epithelioma (MSSE)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
Marfan Syndrome
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratories AGEL a.s. - Novy Jicin, Czech Republic
Loeys-Dietz Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
Loeys-Dietz Syndrome Type 1, Sequencing TGFBR1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Familial Aortic Diseases , Panel Massive Sequencing (NGS) 8 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 10-12 weeks
price: contact lab
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 2-3 weeks
price: contact lab
Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Marfan Syndrome , Panel Massive Sequencing (NGS) 4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
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
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
Marfan syndrome type 2 (sequence analysis of TGFBR1 and TGFBR2 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Loeys-Dietz syndrome (sequence analysis of TGFBR1 and TGFBR2 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Loeys-Dietz syndrome (sequence analysis of TGFBR1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Loeys-Dietz Syndrome Type 1, Deletions-Duplications (MLPA) TGFBR1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 8-9 weeks
price: contact lab
Craniofacial Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2-4 weeks
price: contact lab
TAADNext - Thoracic Aortic Aneurysms and Dissections Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Aortopathies, Familial
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 8-10 weeks
price: contact lab
NGS Connective Tissue Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
Marfan Syndrome and Related Disorders
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Aortopathies
method(s): ◦ Sequencing, Capillary (Sanger) 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
TAT: 2-4 weeks
price: $1,800.00
Craniosynostosis NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,300.00
Craniosynostosis NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 10-12 weeks
price: contact lab
Marfan Syndrome and Related Disorders Multi-Gene Panel, Blood
method(s): ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Personalized Genomics Laboratory - Rochester, MN, USA
TAT: 3-5 weeks
price: contact lab
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Teenager Stroke / Stroke-Like Episodes
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
TGFBR1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
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: 10 weeks
price: contact lab
Marfan/TAAD Sequencing and Del/Dup Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
Marfan and Related Aortopathies (aka TAAD)
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Craniosynostosis (NGS panel for 30 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Marfan and Loeys-Dietz syndromes (NGS panel of 3 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Loeys-Dietz syndrome (deletion/duplication analysis on TGFBR1 and TGFBR2 genes)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Familial Thoracic Aortic Aneurysm NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
Marfan Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
Loeys-Dietz Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
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
Marfan Syndrome, Thoracic Aortic Aneurysm and Dissection (TAAD), and Related Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Marfan Syndrome, Thoracic Aortic Aneurysm and Dissection (TAAD), and Related Disorders: Deletion/Duplication Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Connective Tissue Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Connective Tissue Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Comprehensive Cardiovascular: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Comprehensive Cardiovascular: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab
price: $1,472.00
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 1-2 weeks
price: $600.00
Loeys-Dietz syndrome 1 (LDS1)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TGFBR1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
Loeys-Dietz syndrome Deletions/Duplications
method(s): ◦ Del/Dup (CNV) 
GMDL Genica - Sofia, Bulgaria
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: 4-6 weeks
price: contact lab
TGFBR1 Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
Familial Aortopathy Full Gene Sequencing Panel (CardioGeneSeq)
method(s): ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 8-10 weeks
price: contact lab
Thoracic Aortic Aneurysm Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
TAT: 7-8 weeks
price: contact lab
Thoracic Aortic Aneurysms and Aortic Dissection Test
method(s): ◦ Sequencing, Next Gen 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
TAT: 4-6 weeks
price: contact lab
Thoracic Aortic Aneurysms and Aortic Dissection Test
method(s): ◦ Del/Dup (CNV) 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
TAT: 7-8 weeks
price: contact lab
Loeys-Dietz Syndrome Test
method(s): ◦ Sequencing, Next Gen 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
TAT: 4 weeks
price: contact lab
Loeys-Dietz Syndrome Test
method(s): ◦ Del/Dup (CNV) 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
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: 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
Marfan and Marfan-like Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 17 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Loeys-Dietz Syndrome, Panel Massive Sequencing (NGS) 5 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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: 2-3 weeks
price: contact lab
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
TGFBR1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: $2,950.00
Craniosynostosis NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
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: 4-8 weeks
price: contact lab
Loeys-Dietz Syndrome 1 TGFBR1 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 2-3 weeks
price: contact lab
Core Familial Aneurysm Panel
method(s): ◦ Sequencing, Next Gen 
Collagen Diagnostic Laboratory - Seattle, WA, USA
TAT: 3-4 weeks
price: $690.00
Loeys-Dietz Syndrome via the TGFBR1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Loeys-Dietz Syndrome 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: $1,290.00
Marfan Syndrome and Related Aortopathies 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
Loeys-Dietz Syndrome via the TGFBR1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,490.00
Loeys-Dietz Syndrome Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,490.00
Marfan Syndrome and Related Aortopathies Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
CustomNext-Cardio
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Aortic aneurysm (Aortenaneurysma)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Marfan and Marfan like panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA
Loeys-Dietz syndrome (Loeys-Dietz Syndrom)
method(s): ◦ Sequencing, Capillary (Sanger) 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 11-12 weeks
price: contact lab
Craniosynostosis NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: ~2 weeks
price: contact lab
Marfan syndrome, TGFBR1 related
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Loeys-Dietz syndrome type 2A
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Loeys-Dietz syndrome type 1A
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Aortic aneurysm, familial thoracic type 5
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
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: 10 weeks
price: contact lab
TGFBR1 - Gene sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 4-5 weeks
price: contact lab
Craniosynostosis and craniofacial disorders 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: 16-20 weeks
price: contact lab
Loeys-Dietz Syndrome (LDS) - 4 gene NGS panel
method(s): ◦ Sequencing, Next Gen 
Clinical Genetics & Genomics Laboratory - London, United Kingdom
TAT: 16-20 weeks
price: contact lab
Marfan Syndrome (MFS) - 3 gene NGS panel
method(s): ◦ Sequencing, Next Gen 
Clinical Genetics & Genomics Laboratory - London, United Kingdom
Thoracic aortic dilatation
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 3-5 weeks
price: $1,590.00
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Loeys-Dietz Syndrome Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Aortopathy Comprehensive 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: 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
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
Craniosynostosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Marfan Syndrome 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
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
Craniosynostosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Marfan 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
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
Ehlers-Danlos Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA