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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH

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


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

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

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

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

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

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

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

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

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

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

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

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

ACTA2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ACTA2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Smooth muscle dysfunction (ACTA2 gene, R179H mutation) Panel

Portugal.

By CGC Genetics

This panel specifically test the ACTA2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ACTA2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ACTA2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

Single gene testing ACTA2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ACTA2 gene.

More info about this panel

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

Marfan syndrome, ACTA2 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the ACTA2 gene.

More info about this panel

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

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

ACTA2 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the ACTA2 gene.

More info about this panel

ACTA2 gene sequencing Panel

Spain.

By Health in Code

This panel specifically test the ACTA2 gene.

More info about this panel

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

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

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

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

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

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

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

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

Aortic aneurysm, familial thoracic 6, AAT6 Panel

Slovakia.

By MedGene

This panel specifically test the ACTA2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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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

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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

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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

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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

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ACTA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACTA2 gene.

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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

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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

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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

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Thoracic aortic aneurysm type VI Panel

Spain.

By Bioarray

This panel specifically test the ACTA2 gene.

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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

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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.

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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

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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.

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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

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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

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MOYAMOYA DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL MOYAMOYA DISEASE that also includes the following genes: ACTA2 RNF213

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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

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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

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Thoracic Aortic Aneurysm and Aortic Dissection, Sequencing ACTA2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ACTA2 gene.

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Moyamoya Disease Type 5 , Sequencing ACTA2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ACTA2 gene.

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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

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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

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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

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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

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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

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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

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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

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