COL5A2 gene related symptoms and diseases
All the information presented here about the COL5A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL5A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dermal atrophy | Very Common - Between 80% and 100% cases |
| Bladder diverticulum | Very Common - Between 80% and 100% cases |
| Varicose veins | Very Common - Between 80% and 100% cases |
| Aortic dissection | Very Common - Between 80% and 100% cases |
| Femoral hernia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with COL5A2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Soft skin
- Abnormal oral cavity morphology
- Atrophic scars
- Aortic aneurysm
- Hypertension
- Recurrent urinary tract infections
- Thin skin
- Congenital diaphragmatic hernia
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL5A2 gene
Here you will find a list of rare diseases related to the COL5A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EHLERS-DANLOS SYNDROME TYPE 1
Alternate names
EHLERS-DANLOS SYNDROME TYPE 1 Is also known as eds i
Description
Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.
Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 1
- Scoliosis
- Hypertension
- Hernia
- Pectus excavatum
- Inguinal hernia
More info about EHLERS-DANLOS SYNDROME TYPE 1
EHLERS-DANLOS SYNDROME TYPE 2
Alternate names
EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii, eds2, formerly, eds ii, formerly, ehlers danlos syndrome, mitis type, formerly, ehlers danlos syndrome, mild classic type, formerly, ehlers-danlos syndrome, type ii, formerly
Description
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.
Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 2
- Hypertension
- Hernia
- Pectus excavatum
- Inguinal hernia
- Gastroesophageal reflux
More info about EHLERS-DANLOS SYNDROME TYPE 2
Search interest in COL5A2
Potential gene panels for COL5A2 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.
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.
Ehlers-Danlos Type I/II (COL5A1/COL5A2) Panel
United States.
By Center for Human Genetics, Inc Ehlers-Danlos Type I/II (COL5A1/COL5A2) that also includes the following genes: COL5A1 COL5A2
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.
Ehlers-Danlos syndrome, types I & II genomic sequencing and deleltion/duplication analysis Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Ehlers-Danlos syndrome, types I & II genomic sequencing and deleltion/duplication analysis that also includes the following genes: COL5A1 COL5A2
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.
COL5A2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the COL5A2 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, Classical Type Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Ehlers-Danlos Syndrome, Classical Type that also includes the following genes: COL5A1 COL5A2
More info about this panel United Kingdom.
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.
COL5A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL5A2 gene.
More info about this panel Spain.
COL5A1, COL5A2. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica COL5A1, COL5A2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: COL5A1 COL5A2
More info about this panel Spain.
Connective Tissue Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2
More info about this panel United States.
Connective Tissue Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Connective Tissue Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos Syndrome type I (sequence analysis of COL5A1 and COL5A2 genes) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL5A2 gene.
More info about this panel Portugal.
Ehlers-Danlos Syndrome type I (sequence analysis of COL5A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL5A2 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.
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, Classic Type via COL5A2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COL5A2 gene.
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, classic type Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome, classic type Comprehensive panel that also includes the following genes: COL5A1 COL5A2
More info about this panel United States.
Ehlers-Danlos syndrome, classic type NGS panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome, classic type NGS panel that also includes the following genes: COL5A1 COL5A2
More info about this panel United States.
Ehlers-Danlos syndrome, classic type Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome, classic type Deletion / Duplication panel that also includes the following genes: COL5A1 COL5A2
More info about this panel United States.
Ehlers-Danlos syndrome, type IINGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL5A2 gene.
More info about this panel United States.
Ehlers-Danlos syndrome, type IIComprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL5A2 gene.
More info about this panel United States.
Ehlers-Danlos syndrome, type IIDeletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL5A2 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.
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.
Stickler Syndrome / High Myopia Panel
Germany.
By MGZ Medical Genetics Center Stickler Syndrome / High Myopia that also includes the following genes: P3H2 COL11A1 COL18A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 VCAN FBN1
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 I/II Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL5A2 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.
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, Classic Type (Type I/II, COL5A1, COL5A2) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner Ehlers-Danlos Syndrome, Classic Type (Type I/II, COL5A1, COL5A2) that also includes the following genes: COL5A1 COL5A2
More info about this panel Germany.
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.
COL5A2 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the COL5A2 gene.
More info about this panel Belgium.
COL5 panel Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital COL5 panel that also includes the following genes: COL5A1 COL5A2
More info about this panel Belgium.
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 I Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the COL5A2 gene.
More info about this panel Austria.
Ehlers-Danlos syndrome I Panel
Slovakia.
By MedGene
This panel specifically test the COL5A2 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 type 1 and 2 syndrome: COL5A1 and COL5A2 genes sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ehlers-Danlos type 1 and 2 syndrome: COL5A1 and COL5A2 genes sequence analysis that also includes the following genes: COL5A1 COL5A2
More info about this panel Spain.
Ehlers-Danlos type 1 and 2 syndrome: COL5A2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the COL5A2 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 - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
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 - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel Netherlands.
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel United States.
Connective Tissue Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Comprehensive Cardiovascular: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panel United States.
Comprehensive Cardiovascular: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panel United States.
Connective Tissue Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
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.
COL5A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL5A2 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.
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 I Panel
Spain.
By Bioarray
This panel specifically test the COL5A2 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.
Ehlers-Danlos Syndrome, Type I Panel by NGS Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Ehlers-Danlos Syndrome, Type I Panel by NGS that also includes the following genes: COL5A1 COL5A2
More info about this panel Canada.
COL5A2 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 COL5A2 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, CLASSIC, TYPES 1 & 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL EHLERS-DANLOS SYNDROME, CLASSIC, TYPES 1 & 2 that also includes the following genes: COL5A1 COL5A2
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.
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 Types I and II, Sequencing COL5A1 and COL5A2 Genes Panel
Spain.
By Reference Laboratory Genetics Ehlers-Danlos Syndrome Types I and II, Sequencing COL5A1 and COL5A2 Genes that also includes the following genes: COL5A1 COL5A2
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.
Ehlers-Danlos Syndrome Types I , Sequencing COL5A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL5A2 gene.
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.
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