COL3A1 gene related symptoms and diseases
All the information presented here about the COL3A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL3A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dilatation | Common - Between 50% and 80% cases |
| Joint hypermobility | Common - Between 50% and 80% cases |
| Pain | Common - Between 50% and 80% cases |
| Hypertension | Common - Between 50% and 80% cases |
| Thin skin | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with COL3A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Joint hyperflexibility
Not very common - Between 30% and 50% cases
- Ascending tubular aorta aneurysm
- Gingival overgrowth
- Prematurely aged appearance
- Aplasia/Hypoplasia of the abdominal wall musculature
- Migraine
- Abnormality of the skin
- Microdontia
And 198 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL3A1 gene
Here you will find a list of rare diseases related to the COL3A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EHLERS-DANLOS SYNDROME, VASCULAR TYPE
Alternate names
EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant, eds type 4, ehlers-danlos syndrome type 4, ehlers-danlos syndrome type iv, ehlers-danlos syndrome, ecchymotic type, ehlers-danlos syndrome, arterial type, eds4, sack-barabas syndrome, eds iv, ehlers-danlos syndr
Description
Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
Most common symptoms of EHLERS-DANLOS SYNDROME, VASCULAR TYPE
- Global developmental delay
- Short stature
- Hypertelorism
- Pain
- Cryptorchidism
More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE
Alternate names
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome, ehlers-danlos syndrome, hypermobile type, ht-eds, ehlers-danlos syndrome, type iii, benign hypermobility syndrome, ehlers-danlos syndrome type 3, eds iii, eds3, bjhs
Description
Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.
Most common symptoms of EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE
- Scoliosis
- Pain
- Ptosis
- Epicanthus
- Fatigue
More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE
ACROGERIA
Alternate names
ACROGERIA Is also known as acrometageria, metageria, acrogeria, gottron type, gottron syndrome
Most common symptoms of ACROGERIA
- Intellectual disability
- Short stature
- Scoliosis
- Micrognathia
- Cataract
More info about ACROGERIA
FAMILIAL ABDOMINAL AORTIC ANEURYSM
Alternate names
FAMILIAL ABDOMINAL AORTIC ANEURYSM Is also known as aneurysm, abdominal aortic, aaa, abdominal aortic aneurysm
Description
Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003).
Most common symptoms of FAMILIAL ABDOMINAL AORTIC ANEURYSM
- Pain
- Cataract
- Hypertension
- Vomiting
- Dilatation
More info about FAMILIAL ABDOMINAL AORTIC ANEURYSM
FAMILIAL CEREBRAL SACCULAR ANEURYSM
Alternate names
FAMILIAL CEREBRAL SACCULAR ANEURYSM Is also known as aneurysmal subarachnoid hemorrhage, familial, familial intracranial saccular aneurysm, familial berry aneurysm
Description
Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
Most common symptoms of FAMILIAL CEREBRAL SACCULAR ANEURYSM
- Seizures
- Hypertension
- Dilatation
- Abnormality of the kidney
- Coarctation of aorta
More info about FAMILIAL CEREBRAL SACCULAR ANEURYSM
Search interest in COL3A1
Potential gene panels for COL3A1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
COL3A1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL3A1 gene.
More info about this panel United States.
COL3A1 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL3A1 gene.
More info about this panel United States.
COL3A1 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL3A1 gene.
More info about this panel United States.
Low Bone Mass Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Low Bone Mass Panel (MitomeNGS) that also includes the following genes: SLC34A1 SLC9A3R1 TNFRSF11A TNFRSF11B IFITM5 SP7 FKBP10 P3H1 SLC39A13 COL1A2
More info about this panel United States.
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.
Congenital Contractures Panel Panel
United States.
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 United States.
Ehlers-Danlos Type IV Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the COL3A1 gene.
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.
Ehlers-Danlos syndrome type IV (EDS IV) genomic sequencing and deletion/duplication analysis Panel
United States.
By Collagen Diagnostic Laboratory University of Washington
This panel specifically test the COL3A1 gene.
More info about this panel United States.
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.
Comprehensive Ehlers-Danlos Syndrome Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Comprehensive Ehlers-Danlos Syndrome Panel that also includes the following genes: C1R C1S FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14
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.
COL3A1 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 COL3A1 gene.
More info about this panel United States.
COL3A1 Deletion/duplication analysis 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 COL3A1 gene.
More info about this panel United States.
COL3A1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the COL3A1 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.
Ehlers-Danlos Syndrome Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Ehlers-Danlos Syndrome Panel that also includes the following genes: TNXB C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos Syndrome, vascular Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the COL3A1 gene.
More info about this panel United Kingdom.
COL3A1 gene sequence and deletion/duplication Panel
United States.
By Ambry Genetics
This panel specifically test the COL3A1 gene.
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.
COL3A1, COL5A1, COL5A2. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica COL3A1, COL5A1, COL5A2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: COL3A1 COL5A1 COL5A2
More info about this panel Spain.
COL3A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
COL3A1. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
COL3A1. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
COL3A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
Pneumothorax Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pneumothorax Seq Analysis that also includes the following genes: TGFBR1 TGFBR2 COL3A1 FLCN FBN1
More info about this panel United States.
Pneumothorax Del/ Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pneumothorax Del/ Dup Panel that also includes the following genes: TGFBR1 TGFBR2 COL3A1 FLCN FBN1
More info about this panel United States.
Pneumothorax Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pneumothorax Seq + Del/Dup Panel that also includes the following genes: TGFBR1 TGFBR2 COL3A1 FLCN FBN1
More info about this panel United States.
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.
Ehlers-Danlos Syndrome type IV (sequence analysis of COL3A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL3A1 gene.
More info about this panel Portugal.
Ehlers-Danlos syndrome (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Ehlers-Danlos syndrome (NGS panel for 12 genes) that also includes the following genes: TNXB FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14 PLOD1
More info about this panel Portugal.
Ehlers-Danlos syndrome type IV (deletion/duplication analysis of COL3A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL3A1 gene.
More info about this panel Portugal.
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.
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
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.
Ehlers-Danlos Syndrome, Type IV via COL3A1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COL3A1 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.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Ehlers-Danlos syndrome core NGS panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome core NGS panel that also includes the following genes: COL3A1 COL5A1 COL5A2
More info about this panel United States.
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos syndrome core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome core Deletion / Duplication panel that also includes the following genes: COL3A1 COL5A1 COL5A2
More info about this panel United States.
Ehlers-Danlos syndrome Comprehensive panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panel United States.
Ehlers-Danlos syndrome NGS panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panel United States.
Ehlers-Danlos syndrome core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome core Comprehensive panel that also includes the following genes: COL3A1 COL5A1 COL5A2
More info about this panel United States.
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panel United States.
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
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.
Ehlers-Danlos syndrome, type IV Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL3A1 gene.
More info about this panel United States.
Ehlers-Danlos syndrome, type IV Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL3A1 gene.
More info about this panel United States.
Ehlers-Danlos syndrome, type IV Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL3A1 gene.
More info about this panel United States.
Ehlers-Danlos syndrome, type IV Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL3A1 gene.
More info about this panel United States.
Ehlers-Danlos syndrome, type IV Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL3A1 gene.
More info about this panel United States.
Ehlers-Danlos syndrome, type IV NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL3A1 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.
Ehlers-Danlos Syndrome (EDS) Panel
Germany.
By MGZ Medical Genetics Center Ehlers-Danlos Syndrome (EDS) that also includes the following genes: TNXB FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 ZNF469 CHST14
More info about this panel Germany.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
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.
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.
Teenager Stroke / Stroke-Like Episodes Panel
Germany.
By MGZ Medical Genetics Center Teenager Stroke / Stroke-Like Episodes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TREX1 TTR SLC2A10 CACNA1C CBS ADA2 COL3A1
More info about this panel Germany.
Ehlers Danlos syndrome Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Ehlers Danlos syndrome that also includes the following genes: COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
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.
Ehlers-Danlos syndrome type III Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL3A1 gene.
More info about this panel Germany.
Ehlers-Danlos syndrome type IV Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL3A1 gene.
More info about this panel Germany.
Marfan, Loeys-Dietz syndrome and related disorders panel Panel
Germany.
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 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.
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.
Ehlers-Danlos Syndrome Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Ehlers-Danlos Syndrome that also includes the following genes: COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panel Poland.
Ehlers-Danlos syndrome, COL3A1 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the COL3A1 gene.
More info about this panel Israel.
Ehlers-Danlos Syndrome, Type IV (Vascular Type, COL3A1) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the COL3A1 gene.
More info about this panel Germany.
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.
Ehlers-Danlos Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2
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.
COL3A1 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the COL3A1 gene.
More info about this panel Belgium.
COL3A1 screening Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the COL3A1 gene.
More info about this panel Belgium.
Ehlers-Danlos syndrome type IV, COL3A1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the COL3A1 gene.
More info about this panel United States.
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.
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.
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.
Ehlers-Danlos syndrome IV Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the COL3A1 gene.
More info about this panel Austria.
Ehlers-Danlos syndrome III Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the COL3A1 gene.
More info about this panel Austria.
Ehlers-Danlos syndrome III Panel
Slovakia.
By MedGene
This panel specifically test the COL3A1 gene.
More info about this panel Slovakia.
Ehlers-Danlos syndrome IV Panel
Slovakia.
By MedGene
This panel specifically test the COL3A1 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.
Invitae Ehlers-Danlos Syndrome Panel Panel
United States.
By Invitae Invitae Ehlers-Danlos Syndrome Panel that also includes the following genes: FKBP14 P3H1 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CRTAP CHST14
More info about this panel United States.
Ehlers-Danlos syndrome type IV: COL3A1 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
Ehlers-Danlos syndrome type IV: COL3A1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
EHLERS-DANLOS, SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EHLERS-DANLOS, SYNDROME that also includes the following genes: TNXB SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14 PLOD1 B4GALT7
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 - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
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.
COL3A1 - Gene Sequencing & Del/Dup analysis Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the COL3A1 gene.
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.
Ehlers-Danlos Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Ehlers-Danlos Syndrome NGS Panel that also includes the following genes: COL3A1 COL5A1 COL5A2 PLOD1
More info about this panel United States.
COL3A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL3A1 gene.
More info about this panel United States.
Ehlers-Danlos Panel
Hungary.
By PentaCoreLab Ehlers-Danlos that also includes the following genes: TNXB ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panel Hungary.
Progeria and Progeroid Syndromes Panel Panel
Finland.
By Blueprint Genetics Progeria and Progeroid Syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BSCL2 COL3A1 GORAB AGPAT2 ERCC2 ERCC4 ERCC5
More info about this panel Finland.
Marfan Syndrome Panel Panel
Finland.
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 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.
Ehlers-Danlos Syndrome Panel Panel
Finland.
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 Finland.
Skeletal Dysplasia with Abnormal Mineralization Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
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 Finland.
Ehlers-Danlos syndrome, type III Panel
Spain.
By Bioarray
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
Ehlers-Danlos syndrome, type III Panel
Spain.
By Bioarray
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
Ehlers-Danlos syndrome type IV (vascular) Panel
Spain.
By Bioarray
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
Exome Panel
Brazil.
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panel Brazil.
iGene Cardiac Panel Panel
United States.
By ApolloGen, Inc. iGene Cardiac Panel that also includes the following genes: RYR2 SCN5A TNNI3 TNNT2 TPM1 TTN ACTC1 PCSK9 COL3A1 DSG2
More info about this panel United States.
Ehlers-Danlos Syndrome, Type IV Panel by NGS Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute
This panel specifically test the COL3A1 gene.
More info about this panel Canada.
COL3A1 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 COL3A1 gene.
More info about this panel Canada.
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.
EHLERS-DANLOS SYNDROME, VASCULAR, TYPE 4 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
EHLERS-DANLOS SYNDROME: NGS PANEL-2 Panel
Spain.
By Laboratorio de Genetica Clinica SL EHLERS-DANLOS SYNDROME: NGS PANEL-2 that also includes the following genes: TNXB B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2
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.
Ehlers-Danlos syndrome and related disorders panel Panel
Canada.
By LifeLabs Genetics Ehlers-Danlos syndrome and related disorders panel that also includes the following genes: FKBP14 COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panel Canada.
Ehlers-Danlos Syndrome Type IV , Deletions-Duplications (MLPA) COL3A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL3A1 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.
Ehlers-Danlos Syndrome Type IV, Sequencing COL3A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL3A1 gene.
More info about this panel Spain.
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: TNXB B3GALT6 FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14
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.
Ehlers-Danlos syndrome, type 4 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the COL3A1 gene.
More info about this panel Germany.
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.
Vascular Ehlers-Danlos Syndrome: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the COL3A1 gene.
More info about this panel Canada.
Vascular Ehlers-Danlos Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the COL3A1 gene.
More info about this panel Canada.
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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