ACTA2 gene related symptoms and diseases
All the information presented here about the ACTA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACTA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Stroke | Common - Between 50% and 80% cases |
| Dilatation | Common - Between 50% and 80% cases |
| Thoracic aortic aneurysm | Common - Between 50% and 80% cases |
| Hypertension | Common - Between 50% and 80% cases |
| Patent ductus arteriosus | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ACTA2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of the vasculature
- Ischemic stroke
- Bicuspid aortic valve
- Ascending aortic dissection
- Aortic dissection
- Dilatation of the cerebral artery
- Cutis marmorata
- Ascending tubular aorta aneurysm
And 69 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACTA2 gene
Here you will find a list of rare diseases related to the ACTA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
Alternate names
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad
Description
Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
- Scoliosis
- Hypertelorism
- Hypertension
- Dilatation
- Patent ductus arteriosus
More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
SOURCES: ORPHANET
MOYAMOYA DISEASE
Alternate names
MOYAMOYA DISEASE Is also known as idiopathic moyamoya disease
Description
Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.
Most common symptoms of MOYAMOYA DISEASE
- Intellectual disability
- Seizures
- Ventriculomegaly
- Headache
- Mental deterioration
More info about MOYAMOYA DISEASE
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Alternate names
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME Is also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy
Description
Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.
Most common symptoms of MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
- Global developmental delay
- Cryptorchidism
- Hypertension
- Hypoplasia of the corpus callosum
- Edema
More info about MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
Alternate names
AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 Is also known as familial thoracic aortic aneurysm with livedo reticularis and iris flocculi
Most common symptoms of AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
- Hypertension
- Dilatation
- Patent ductus arteriosus
- Coloboma
- Myocardial infarction
More info about AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
MOYAMOYA DISEASE 5; MYMY5
Description
Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (OMIM ).
Most common symptoms of MOYAMOYA DISEASE 5; MYMY5
- Dilatation
- Stroke
- Ascending tubular aorta aneurysm
- Moyamoya phenomenon
More info about MOYAMOYA DISEASE 5; MYMY5
SOURCES: OMIM
Search interest in ACTA2
Potential gene panels for ACTA2 gene
NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Aortic Dysfunction or Dilation and Related Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2
More info about this panel United States.
NGS Connective Tissue Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2
More info about this panel United States.
Familial Aortic Aneurysms Panel
United States.
By Center for Human Genetics, Inc Familial Aortic Aneurysms that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SMAD3 MYH11 MYLK PRKG1
More info about this panel United States.
Connective Tissue Disorders 22-gene panel Panel
United States.
By Center for Human Genetics, Inc Connective Tissue Disorders 22-gene panel that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TGFBR3 ACTA2 NTM COL11A1 COL11A2 COL1A2 COL3A1
More info about this panel United States.
Thoracic aortic aneurysms and aortic dissection - full panel Panel
Canada.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Thoracic aortic aneurysms and aortic dissection - full panel that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 COL3A1 FBN1 SMAD3 MYH11 MYLK
More info about this panel Canada.
Thoracic aortic aneurysms and aortic dissection - familial variant analysis Panel
Canada.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Thoracic aortic aneurysms and aortic dissection - familial variant analysis that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 COL3A1 FBN1 SMAD3 MYH11 MYLK
More info about this panel Canada.
Familial Aneurysm Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Familial Aneurysm Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
Cardiomyopathy Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panel United States.
Connective Tissue Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panel United States.
Familial Aneurysm and Aortopathy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Familial Aneurysm and Aortopathy that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panel United States.
Thoracic Aortic Aneurysm Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Thoracic Aortic Aneurysm Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 FBN1 FBN2
More info about this panel United States.
ACTA2 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ACTA2 gene.
More info about this panel United States.
ACTA2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ACTA2 gene.
More info about this panel Germany.
Aortopathy Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Aortopathy Panel, Sequencing and Deletion/Duplication that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2
More info about this panel United States.
Marfan/TAAD Sequencing Panel Panel
United States.
By GeneDx Marfan/TAAD Sequencing Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel United States.
Marfan Syndrome/TAAD Del/Dup Panel Panel
United States.
By GeneDx Marfan Syndrome/TAAD Del/Dup Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2 FBN1 FBN2
More info about this panel United States.
Marfan/TAAD Sequencing & Del/Dup Panel Panel
United States.
By GeneDx Marfan/TAAD Sequencing & Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel United States.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
COL3A1 gene sequence and deletion/duplication reflex TAADNext Panel
United States.
By Ambry Genetics COL3A1 gene sequence and deletion/duplication reflex TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
CustomNext: Cardio Panel
United States.
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panel United States.
TAADNext Panel
United States.
By Ambry Genetics TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
FBN1 gene sequence and deletion/duplication reflex TAADNext Panel
United States.
By Ambry Genetics FBN1 gene sequence and deletion/duplication reflex TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TGFBR1 TGFBR2 TGFBR3 ACTA2 ELN FBN1 FBN2
More info about this panel Spain.
ACTA2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACTA2 gene.
More info about this panel Spain.
Connective Tissue Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2
More info about this panel United States.
Connective Tissue Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Connective Tissue Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Smooth muscle dysfunction (ACTA2 gene, R179H mutation) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACTA2 gene.
More info about this panel Portugal.
Aortic aneurysm, familial thoracic 6 (sequence analysis of ACTA2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACTA2 gene.
More info about this panel Portugal.
Moyamoya disease 5 (sequence analysis of ACTA2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACTA2 gene.
More info about this panel Portugal.
Multisystemic smooth muscle dysfunction syndrome (sequence analysis of ACTA2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACTA2 gene.
More info about this panel Portugal.
Thoracic aortic aneurysm, familial form (NGS panel for 3 genes) Panel
Portugal.
By CGC Genetics Thoracic aortic aneurysm, familial form (NGS panel for 3 genes) that also includes the following genes: ACTA2 SMAD3 MYH11
More info about this panel Portugal.
Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes) Panel
Portugal.
By CGC Genetics Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes) that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 FBN1 FBN2 SMAD3 MYH11 MYLK
More info about this panel Portugal.
Dilated Cardiomyopathy with Quadriceps Myopathy Panel
United States.
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the ACTA2 gene.
More info about this panel United States.
ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections Panel
United States.
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the ACTA2 gene.
More info about this panel United States.
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection that also includes the following genes: SKI SMS TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Thoracic Aortic Aneurysm and Dissection (TAAD) via ACTA2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ACTA2 gene.
More info about this panel United States.
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 MFAP5 FBN1 FOXE3 LOX
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Aortic aneurysm, familial thoracic 6 Sequencing Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the ACTA2 gene.
More info about this panel United States.
Aortic aneurysm, familial thoracic 6 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the ACTA2 gene.
More info about this panel United States.
Aortic aneurysm, familial thoracic 6 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the ACTA2 gene.
More info about this panel United States.
Connective tissue disorder Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder NGS panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Thoracic aortic diseases Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Thoracic aortic diseases that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 CBS COL3A1 FBN1 SMAD3 MYH11 MYLK
More info about this panel Germany.
Marfan syndrome, EDS and other connective tissue disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Marfan syndrome, EDS and other connective tissue disorders - different panels that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS GATA5
More info about this panel Germany.
ACTA2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ACTA2 gene.
More info about this panel Germany.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel Germany.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) Panel
Germany.
By MGZ Medical Genetics Center Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 EFEMP2 FBN1
More info about this panel Germany.
Cardiovascular disorders panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiovascular disorders panel that also includes the following genes: SLC8A1 TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel Netherlands.
Aortic aneurysm, familial thoracic type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACTA2 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Familial thoracic aortic aneurysm panel Panel
Germany.
By Centogene AG - the Rare Disease Company Familial thoracic aortic aneurysm panel that also includes the following genes: BGN ACTA2 CBS MFAP5 LOX MAT2A MYH11 MYLK
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Single gene testing ACTA2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ACTA2 gene.
More info about this panel Germany.
Thoracic Aortic Aneurysms and Aortic Dissections Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Thoracic Aortic Aneurysms and Aortic Dissections that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 COL3A1 FBN1 SMAD3 MYH11 MYLK
More info about this panel Poland.
Marfan syndrome, ACTA2 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the ACTA2 gene.
More info about this panel Israel.
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes Panel
Estonia.
By Asper Biogene Asper Biogene LLC Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 COL3A1 COL5A1 FBN1 SMAD3 MYH11
More info about this panel Estonia.
HAD panel 1 Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital HAD panel 1 that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 FBN1 SMAD3 MYH11
More info about this panel Belgium.
ACTA2 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the ACTA2 gene.
More info about this panel Belgium.
ACTA2 gene sequencing Panel
Spain.
By Health in Code
This panel specifically test the ACTA2 gene.
More info about this panel Spain.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Aortic Valvular Diseases Panel Panel
Spain.
By Health in Code Aortic Valvular Diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ADAMTSL4 COL1A2
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Congenital Heart Diseases Panel Panel
Spain.
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Congenital heart diseases Panel Panel
Spain.
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panel Spain.
Aortic diseases Panel Panel
Spain.
By Health in Code Aortic diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS GATA5
More info about this panel Spain.
Aortic aneurysm, familial thoracic 6, AAT6 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ACTA2 gene.
More info about this panel Austria.
Aortic aneurysm, familial thoracic 6, AAT6 Panel
Slovakia.
By MedGene
This panel specifically test the ACTA2 gene.
More info about this panel Slovakia.
Invitae Aortopathy Comprehensive Panel Panel
United States.
By Invitae Invitae Aortopathy Comprehensive Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
Thoracic aortic aneurysm and aortic dissection: ACTA2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ACTA2 gene.
More info about this panel Spain.
AORTOPATHIES, FAMILIAL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases AORTOPATHIES, FAMILIAL that also includes the following genes: TGFBR1 TGFBR2 TGFBR3 ACTA2 ADAMTSL4 FBN1 FBN2 SMAD3 MYLK
More info about this panel Spain.
Marfan syndrome and related disorders Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Marfan syndrome and related disorders that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 COL3A1 COL5A1 COL5A2 FBN1 FBN2 SMAD3
More info about this panel Spain.
NGS panel - Aortic or arterial dilatation / dissection Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Aortic or arterial dilatation / dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2
More info about this panel Netherlands.
NGS panel- Aortic or arterial dilatation/dissection Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2
More info about this panel Netherlands.
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1
More info about this panel Netherlands.
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1
More info about this panel Netherlands.
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel United States.
Connective Tissue Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Comprehensive Cardiovascular: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panel United States.
Comprehensive Cardiovascular: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panel United States.
Connective Tissue Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Familial Aortopathy Full Gene Sequencing Panel Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Familial Aortopathy Full Gene Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 COL3A1 FBN1 MYH11
More info about this panel United States.
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel United States.
Connective Tissue NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
ACTA2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACTA2 gene.
More info about this panel United States.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
Aorta Panel Panel
Finland.
By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Thoracic aortic aneurysm type VI Panel
Spain.
By Bioarray
This panel specifically test the ACTA2 gene.
More info about this panel Spain.
Familial Thoracic Aortic Aneurysm NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Thoracic Aortic Aneurysm NGS and Deletion/Duplication Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 FBN1 SMAD3 SMAD6 MYH11 MYLK
More info about this panel United States.
ACTA2 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ACTA2 gene.
More info about this panel United States.
Aortic Aneurysm, Familial Thoracic Panel by NGS Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Aortic Aneurysm, Familial Thoracic Panel by NGS that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 FBN1 SMAD3 MYH11 MYLK
More info about this panel Canada.
ACTA2 Gene, entire coding region or targeted variant Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute
This panel specifically test the ACTA2 gene.
More info about this panel Canada.
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 FBN1 SMAD3 MYH11 MYLK
More info about this panel Spain.
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 ADAMTSL4 COL3A1 COL5A1 COL5A2
More info about this panel Spain.
MOYAMOYA DISEASE Panel
Spain.
By Laboratorio de Genetica Clinica SL MOYAMOYA DISEASE that also includes the following genes: ACTA2 RNF213
More info about this panel Spain.
MARFAN SYNDROME AND RELATED DISEASES: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MARFAN SYNDROME AND RELATED DISEASES: NGS PANEL that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 ADAMTSL4 COL3A1 COL5A1 COL5A2
More info about this panel Spain.
Aortic aneurysm, hereditary thoracic panel Panel
Canada.
By LifeLabs Genetics Aortic aneurysm, hereditary thoracic panel that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 FBN1 FBN2 SMAD3
More info about this panel Canada.
Thoracic Aortic Aneurysm and Aortic Dissection, Sequencing ACTA2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ACTA2 gene.
More info about this panel Spain.
Moyamoya Disease Type 5 , Sequencing ACTA2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ACTA2 gene.
More info about this panel Spain.
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TGFBR1 TGFBR2 ACTA2 COL3A1 COL5A1 FBN1 FBN2 SMAD3 MYH11
More info about this panel Spain.
Familial Aortic Diseases , Panel Massive Sequencing 8 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Aortic Diseases , Panel Massive Sequencing 8 Genes that also includes the following genes: TGFBR1 TGFBR2 ACTA2 ADAMTSL4 FBN1 FBN2 SMAD3 MYLK
More info about this panel Spain.
Moyamoya Disease , Panel Massive Sequencing (NGS) ACTA2,RNF213 Genes Panel
Spain.
By Reference Laboratory Genetics Moyamoya Disease , Panel Massive Sequencing (NGS) ACTA2,RNF213 Genes that also includes the following genes: ACTA2 RNF213
More info about this panel Spain.
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel
Spain.
By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1
More info about this panel Spain.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Heritable Thoracic Aortic Disease: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Heritable Thoracic Aortic Disease: gene sequencing panel that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 MFAP5 FBN1 SMAD3 MAT2A
More info about this panel Canada.
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