FBN2 gene related symptoms and diseases
All the information presented here about the FBN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FBN2 gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Uncommon - Between 30% and 50% cases |
Decreased muscle mass | Uncommon - Between 30% and 50% cases |
Distal arthrogryposis | Uncommon - Between 30% and 50% cases |
Aortic root aneurysm | Uncommon - Between 30% and 50% cases |
Hip contracture | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FBN2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Ulnar deviation of finger
- Keratoconus
- Abnormality of the musculature
- Slender finger
- Disproportionate tall stature
- Metatarsus adductus
- Scaphocephaly
- Tracheoesophageal fistula
And 74 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FBN2 gene
Here you will find a list of rare diseases related to the FBN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL CONTRACTURAL ARACHNODACTYLY
Alternate names
CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9, cca syndrome, contractural arachnodactyly, congenital, beals syndrome, beals-hecht syndrome, cca
Description
Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Most common symptoms of CONGENITAL CONTRACTURAL ARACHNODACTYLY
- Global developmental delay
- Scoliosis
- Micrognathia
- Pain
- Flexion contracture
More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY
MACULAR DEGENERATION, EARLY-ONSET; EOMD
Most common symptoms of MACULAR DEGENERATION, EARLY-ONSET; EOMD
- Reduced visual acuity
- Abnormality of skin pigmentation
- Macular degeneration
- Macular dystrophy
- Choroidal neovascularization
More info about MACULAR DEGENERATION, EARLY-ONSET; EOMD
SOURCES: OMIM
Search interest in FBN2
Potential gene panels for FBN2 gene
NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel
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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![](/img/flags/United-states.png)
NGS Connective Tissue Disorders Panel Panel
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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![](/img/flags/United-states.png)
Congenital Contractures Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel![](/img/flags/United-states.png)
Beals Contractural Arachnodactyly Panel
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By Center for Human Genetics, Inc
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/United-states.png)
Connective Tissue Disorders 22-gene panel Panel
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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![](/img/flags/United-states.png)
Familial Aneurysm Panel Panel
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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![](/img/flags/United-states.png)
Cardiomyopathy Panel Panel
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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![](/img/flags/United-states.png)
Connective Tissue Disorders Panel Panel
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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![](/img/flags/United-states.png)
Familial Aneurysm and Aortopathy Panel
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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![](/img/flags/United-states.png)
Thoracic Aortic Aneurysm Panel Panel
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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![](/img/flags/United-states.png)
Distal Arthrogryposis Deletion/Duplication Panel Panel
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By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Deletion/Duplication Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3
More info about this panel![](/img/flags/United-states.png)
Distal Arthrogryposis Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Sequencing Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3
More info about this panel![](/img/flags/United-states.png)
FBN2 Panel
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By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Aortopathy Panel, Sequencing and Deletion/Duplication Panel
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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![](/img/flags/United-states.png)
Marfan/TAAD Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Marfan Syndrome/TAAD Del/Dup Panel Panel
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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![](/img/flags/United-states.png)
Marfan/TAAD Sequencing & Del/Dup Panel Panel
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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![](/img/flags/United-states.png)
Connective Tissue Disorders Panel Panel
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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![](/img/flags/United-states.png)
COL3A1 gene sequence and deletion/duplication reflex TAADNext Panel
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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![](/img/flags/United-states.png)
CustomNext: Cardio Panel
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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![](/img/flags/United-states.png)
TAADNext Panel
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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![](/img/flags/United-states.png)
FBN1 gene sequence and deletion/duplication reflex TAADNext Panel
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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![](/img/flags/United-states.png)
TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
FBN2. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
FBN2. Sequencing of the exons 24-36 Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Connective Tissue Seq Analysis Panel
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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![](/img/flags/United-states.png)
Connective Tissue Seq + Del/Dup Panel Panel
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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![](/img/flags/United-states.png)
Connective Tissue Del/Dup Panel Panel
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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![](/img/flags/United-states.png)
Congenital Contractural Arachnodactyly (sequence analysis of FBN2 gene) Panel
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By CGC Genetics
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital contractural arachnodactyly (deletions/duplications analysis of FBN2 gene) Panel
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By CGC Genetics
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital contractural arachnodactyly (deletions/duplications analysis of FBN2 gene) Panel
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By CGC Genetics
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Congenital Contractural Arachnodactyly (Beals Syndrome) via FBN2 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/United-states.png)
Distal Arthrogryposis Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Distal Arthrogryposis Sequencing Panel with CNV Detection that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3
More info about this panel![](/img/flags/United-states.png)
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Sudden Cardiac Arrest Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Sudden Cardiac Arrest Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN2B SCN4B SCN5A SNTA1 TGFBR2 TNNC1 TNNI3 TNNT2 TPM1
More info about this panel![](/img/flags/United-states.png)
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel![](/img/flags/United-states.png)
Congenital contracture syndrome extended NGS panel Panel
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By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel![](/img/flags/United-states.png)
Congenital contracture syndrome extended Comprehensive panel Panel
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By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel![](/img/flags/United-states.png)
Congenital contracture syndrome extended Deletion / Duplication panel Panel
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By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel![](/img/flags/United-states.png)
Distal arthrogryposes NGS panel Panel
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By Connective Tissue Gene Tests Distal arthrogryposes NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8
More info about this panel![](/img/flags/United-states.png)
Distal arthrogryposes Comprehensive panel Panel
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By Connective Tissue Gene Tests Distal arthrogryposes Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8
More info about this panel![](/img/flags/United-states.png)
Distal arthrogryposes Deletion / Duplication panel Panel
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By Connective Tissue Gene Tests Distal arthrogryposes Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8
More info about this panel![](/img/flags/United-states.png)
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel
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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![](/img/flags/United-states.png)
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel
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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![](/img/flags/United-states.png)
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel
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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![](/img/flags/United-states.png)
Fibrillinopathy NGS panel Panel
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By Connective Tissue Gene Tests Fibrillinopathy NGS panel that also includes the following genes: CBS FBN1 FBN2
More info about this panel![](/img/flags/United-states.png)
Fibrillinopathy Deletion / Duplication panel Panel
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By Connective Tissue Gene Tests Fibrillinopathy Deletion / Duplication panel that also includes the following genes: CBS FBN1 FBN2
More info about this panel![](/img/flags/United-states.png)
Fibrillinopathy Comprehensive panel Panel
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By Connective Tissue Gene Tests Fibrillinopathy Comprehensive panel that also includes the following genes: CBS FBN1 FBN2
More info about this panel![](/img/flags/United-states.png)
Congenital contractural arachnodactyly NGS Test Panel
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By Connective Tissue Gene Tests
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/United-states.png)
Congenital contractural arachnodactyly Comprehensive Test Panel
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By Connective Tissue Gene Tests
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/United-states.png)
Congenital contractural arachnodactyly Deletion / Duplication Test Panel
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By Connective Tissue Gene Tests
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/United-states.png)
Connective tissue disorder Deletion / Duplication panel Panel
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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![](/img/flags/United-states.png)
Connective tissue disorder Comprehensive panel Panel
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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![](/img/flags/United-states.png)
Connective tissue disorder NGS panel Panel
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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![](/img/flags/United-states.png)
Marfan syndrome, EDS and other connective tissue disorders - different panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Cardiovascular disorders panel Panel
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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![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Arthrogryposis panel Panel
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By Centogene AG - the Rare Disease Company Arthrogryposis panel that also includes the following genes: TNNI2 TNNT3 TPM2 FBN2 MYBPC1 MYH3 MYH8
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Arthrogryposis, distal type 9 Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Marfan, Loeys-Dietz syndrome and related disorders panel Panel
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By Centogene AG - the Rare Disease Company Marfan, Loeys-Dietz syndrome and related disorders panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 SLC2A10 COL3A1 COL5A1 COL5A2 EFEMP2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Contractural Arachnodactyly Panel
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By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel
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By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Contractural Arachnodactyly (FBN2) Panel
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By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
FBN2 mutational analysis Panel
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By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Belgium.png.pagespeed.ce.T9_KUy1C9-.png)
HAD panel 2 Panel
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By Connective Tissue Laboratory Ghent University Hospital HAD panel 2 that also includes the following genes: ADAMTS10 SLC2A10 EFEMP2 ELN FBN2 FLNA MYLK NOTCH1 PRKG1
More info about this panel![](/img/flags/Belgium.png.pagespeed.ce.T9_KUy1C9-.png)
FBN2 screening Panel
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By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Belgium.png.pagespeed.ce.T9_KUy1C9-.png)
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Aortic Valvular Diseases Panel Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Cardiovascular Diseases_General Panel Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Aortic diseases Panel Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Invitae Aortopathy Comprehensive Panel Panel
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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![](/img/flags/United-states.png)
Contractural congenital arachnodactyly: FBN2 gene sequence analysis (exons 15, 22-33, 35-36) Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Contractural Arachnodactyl: FBN2 gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ARTHROGRYPOSIS Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ARTHROGRYPOSIS that also includes the following genes: TNNI2 TNNT3 TPM2 FBN2 MYBPC1 MYH3 MYH8
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
AORTOPATHIES, FAMILIAL Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Marfan syndrome and related disorders Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
NGS panel - Aortic or arterial dilatation / dissection Panel
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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![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
NGS panel- Aortic or arterial dilatation/dissection Panel
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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![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Panel
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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![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 Panel
![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
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![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Connective Tissue Disorders: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Comprehensive Cardiovascular: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Comprehensive Cardiovascular: Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Connective Tissue Disorders: Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel Panel
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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![](/img/flags/United-states.png)
Connective Tissue NGS Panel Panel
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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![](/img/flags/United-states.png)
Intellectual Disability NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel![](/img/flags/United-states.png)
Sudden Death Syndrome NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3
More info about this panel![](/img/flags/United-states.png)
FBN2 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/United-states.png)
Marfan Syndrome Panel Panel
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By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Arthrogryposes Panel Panel
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By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Aorta Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Ehlers-Danlos Syndrome Panel Panel
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By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
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By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Congenital contractural arachnodactyly Panel
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By Bioarray
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
CONGENITAL CONTRACTURAL ARACHNODACTYLY ( BEALS-HECHT SYNDROME) Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
MARFAN SYNDROME AND RELATED DISEASES: NGS PANEL Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ARTHROGRYPOSIS NGS PANEL Panel
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By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Aortic aneurysm, hereditary thoracic panel Panel
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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![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Congenital Contractural Arachnodactyly, Sequencing FBN2 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Contractural Arachnodactyly, Sequencing Rest Exons FBN2 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Contractural Arachnodactyly, Sequencing Selected Exons (15, 22-33, 35-36) FBN2 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the FBN2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes Panel
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By Reference Laboratory Genetics Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes that also includes the following genes: TNNI2 TNNT3 TPM2 SCARF2 PIEZO2 FBN2 MYBPC1 MYH3 MYH8
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familial Aortic Diseases , Panel Massive Sequencing 8 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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