Aortic Aneurysm, Familial Abdominal, 1; Aaa1

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). Genetic Heterogeneity of Abdominal Aortic AneurysmMapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 (OMIM ) on chromosome 4q31; AAA3 (OMIM ) on chromosome 9p21; and AAA4 (OMIM ) on chromosome 12q13.

Clinical Features

Phenotypes and symptoms related to Aortic Aneurysm, Familial Abdominal, 1; Aaa1

  • Cataract
  • Hypertension
  • Hernia
  • Dilatation
  • Diabetes mellitus
  • Abnormality of the cardiovascular system
  • Aortic aneurysm
  • Peripheral arterial stenosis
  • Thoracic aortic aneurysm
  • Abdominal aortic aneurysm

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Aortic Aneurysm, Familial Abdominal, 1; Aaa1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
COL3A1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL3A1
Specificity
100 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FBLN5, COL1A1, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
5 %
Genes
100 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Ehlers-Danlos Type IV.

By Center for Human Genetics, Inc in United States.

COL3A1
Specificity
100 %
Genes
100 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc in United States.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, COL5A1, COL5A2, FLNA, COL11A1, COL11A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, MYH11, PRKG1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Thoracic aortic aneurysms and aortic dissection - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

COL3A1, FBN1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
Thoracic aortic aneurysms and aortic dissection - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

COL3A1, FBN1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
Ehlers-Danlos syndrome type IV (EDS IV) genomic sequencing and deletion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL3A1
Specificity
100 %
Genes
100 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL3A1, FBN1, PLOD3, CBS, SMAD4, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Comprehensive Ehlers-Danlos Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

ATP7A, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, CHST14, C1S, C1R
Specificity
8 %
Genes
100 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Connective Tissue Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Familial Aneurysm and Aortopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Thoracic Aortic Aneurysm Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

COL3A1, FBN1, CBS, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
8 %
Genes
100 %
COL3A1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

COL3A1
Specificity
100 %
Genes
100 %
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Marfan/TAAD Sequencing Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
100 %
Marfan Syndrome/TAAD Del/Dup Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, SLC2A10, MYH11
Specificity
9 %
Genes
100 %
Marfan/TAAD Sequencing & Del/Dup Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Ehlers-Danlos Syndrome, vascular.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
FBN1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
COL3A1, COL5A1, COL5A2. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL3A1, COL5A1, COL5A2
Specificity
34 %
Genes
100 %
COL3A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL3A1
Specificity
100 %
Genes
100 %
Pneumothorax Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL3A1, FBN1, FLCN, TGFBR1, TGFBR2
Specificity
20 %
Genes
100 %
Pneumothorax Del/ Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL3A1, FBN1, FLCN, TGFBR1, TGFBR2
Specificity
20 %
Genes
100 %
Pneumothorax Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL3A1, FBN1, FLCN, TGFBR1, TGFBR2
Specificity
20 %
Genes
100 %
Connective Tissue Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FBLN5, COL1A1, COL1A2, COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Connective Tissue Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Connective Tissue Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos Syndrome type IV (sequence analysis of COL3A1 gene).

By CGC Genetics in Portugal.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome (NGS panel for 12 genes).

By CGC Genetics in Portugal.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, TNXB, CHST14
Specificity
9 %
Genes
100 %
Ehlers-Danlos syndrome type IV (deletion/duplication analysis of COL3A1 gene).

By CGC Genetics in Portugal.

COL3A1
Specificity
100 %
Genes
100 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, SMS, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Ehlers-Danlos Syndrome, Type IV via the COL3A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL3A1
Specificity
100 %
Genes
100 %
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL3A1, FBN1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A, LOX
Specificity
6 %
Genes
100 %
Ehlers-Danlos syndrome core NGS panel.

By Connective Tissue Gene Tests in United States.

COL3A1, COL5A1, COL5A2
Specificity
34 %
Genes
100 %
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
100 %
Ehlers-Danlos syndrome core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL3A1, COL5A1, COL5A2
Specificity
34 %
Genes
100 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R
Specificity
12 %
Genes
100 %
Ehlers-Danlos syndrome NGS panel - Dominant.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R
Specificity
12 %
Genes
100 %
Ehlers-Danlos syndrome core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL3A1, COL5A1, COL5A2
Specificity
34 %
Genes
100 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R
Specificity
12 %
Genes
100 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
100 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Ehlers-Danlos syndrome, type IV.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome, type IV Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome, type IV Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome, type IV Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome, type IV Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome, type IV NGS Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
100 %
Thoracic aortic diseases.

By Institute of Human Genetics Cologne University in Germany.

COL3A1, FBN1, CBS, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11
Specificity
10 %
Genes
100 %
Marfan syndrome, EDS and other connective tissue disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

B4GALT7, COL1A1, COL1A2, COL3A1, ELN, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL4A5, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos Syndrome (EDS).

By MGZ Medical Genetics Center in Germany.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469
Specificity
8 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD).

By MGZ Medical Genetics Center in Germany.

COL3A1, FBN1, CBS, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, SLC2A10, MYH11, EFEMP2, PRKG1
Specificity
7 %
Genes
100 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

TTR, COL3A1, AMACR, POLG, FBN1, OTC, CBS, GLA, NOTCH3, COL4A1, FLNA, TREX1, HTRA1, CACNA1C, TGFB2, TGFBR1, TGFBR2, SLC2A10, ABCC6, ADA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Ehlers Danlos syndrome.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1
Specificity
17 %
Genes
100 %
Cardiovascular disorders panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TGFB3, SLC8A1
Specificity
6 %
Genes
100 %
Ehlers-Danlos syndrome type III.

By Centogene AG - the Rare Disease Company in Germany.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome type IV.

By Centogene AG - the Rare Disease Company in Germany.

COL3A1
Specificity
100 %
Genes
100 %
Marfan, Loeys-Dietz syndrome and related disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10, EFEMP2, TGFB3, SMAD2
Specificity
7 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Thoracic Aortic Aneurysms and Aortic Dissections.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11
Specificity
12 %
Genes
100 %
Ehlers-Danlos Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1
Specificity
17 %
Genes
100 %
Ehlers-Danlos syndrome, COL3A1.

By GGA - Galil Genetic Analysis in Israel.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndrome, Type IV (Vascular Type, COL3A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

COL3A1
Specificity
100 %
Genes
100 %
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes.

By Asper Biogene Asper Biogene LLC in Estonia.

COL3A1, FBN1, COL5A1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
HAD panel 1.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, ACTA2, MYH11, TGFB3
Specificity
10 %
Genes
100 %
COL3A1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1 screening.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome type IV, COL3A1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

COL3A1
Specificity
100 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Aortic diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, MED12, ZDHHC9, TGFB2, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos syndrome IV.

By Praxis fuer Humangenetik Wien in Austria.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome III.

By Praxis fuer Humangenetik Wien in Austria.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome III.

By MedGene in Slovakia.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome IV.

By MedGene in Slovakia.

COL3A1
Specificity
100 %
Genes
100 %
Invitae Aortopathy Comprehensive Panel.

By Invitae in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Invitae Ehlers-Danlos Syndrome Panel.

By Invitae in United States.

ATP7A, COL1A1, COL1A2, COL3A1, SLC39A13, P3H1, CRTAP, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, CHST14
Specificity
8 %
Genes
100 %
Ehlers-Danlos syndrome type IV: COL3A1 gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome type IV: COL3A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL3A1
Specificity
100 %
Genes
100 %
EHLERS-DANLOS, SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, TNXB, CHST14
Specificity
10 %
Genes
100 %
Marfan syndrome and related disorders.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, MYH11
Specificity
10 %
Genes
100 %
NGS panel - Aortic or arterial dilatation / dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, COL3A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
COL3A1 - Gene Sequencing & Del/Dup analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1
Specificity
100 %
Genes
100 %
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
100 %
Connective Tissue Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Connective Tissue Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Familial Aortopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

COL3A1, FBN1, TGFBR1, TGFBR2, ACTA2, MYH11
Specificity
17 %
Genes
100 %
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
6 %
Genes
100 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL4A1, COL11A1, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Ehlers-Danlos Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL3A1, COL5A1, COL5A2, PLOD1
Specificity
25 %
Genes
100 %
COL3A1.

By Fulgent Genetics Fulgent Genetics in United States.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos.

By PentaCoreLab in Hungary.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, ADAMTS2, TNXB
Specificity
13 %
Genes
100 %
Progeria and Progeroid Syndromes Panel.

By Blueprint Genetics in Finland.

RECQL4, B4GALT7, COL3A1, PYCR1, ALDH18A1, BLM, LMNA, BSCL2, ERCC2, ZMPSTE24, ERCC6, GORAB, ERCC4, ERCC8, AGPAT2, WRN, ERCC5
Specificity
6 %
Genes
100 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, COL11A1, COL11A2, MED12, UPF3B, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Ehlers-Danlos syndrome, type III.

By Bioarray in Spain.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome, type III.

By Bioarray in Spain.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome type IV (vascular).

By Bioarray in Spain.

COL3A1
Specificity
100 %
Genes
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
iGene Cardiac Panel.

By ApolloGen, Inc. in United States.

COL3A1, DSP, GLA, LDLR, LMNA, TTN, MYH7, MYBPC3, KCNH2, SCN5A, KCNQ1, PKP2, RYR2, ACTC1, TNNI3, PRKAG2, DSG2, TPM1, TNNT2, MYL3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Ehlers-Danlos Syndrome, Type IV Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

COL3A1
Specificity
100 %
Genes
100 %
COL3A1 Gene, entire coding region or targeted variant.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

COL3A1
Specificity
100 %
Genes
100 %
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TGFB3, PRKG1, MFAP5
Specificity
7 %
Genes
100 %
EHLERS-DANLOS SYNDROME, VASCULAR, TYPE 4.

By Laboratorio de Genetica Clinica SL in Spain.

COL3A1
Specificity
100 %
Genes
100 %
EHLERS-DANLOS SYNDROME: NGS PANEL-1.

By Laboratorio de Genetica Clinica SL in Spain.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, TNXB
Specificity
15 %
Genes
100 %
EHLERS-DANLOS SYNDROME: NGS PANEL-2.

By Laboratorio de Genetica Clinica SL in Spain.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, TNXB, CHST14, B3GALT6, DSE
Specificity
7 %
Genes
100 %
Aortic aneurysm, hereditary thoracic panel.

By LifeLabs Genetics in Canada.

COL3A1, FBN1, CBS, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
9 %
Genes
100 %
Ehlers-Danlos syndrome and related disorders panel.

By LifeLabs Genetics in Canada.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, FKBP14
Specificity
15 %
Genes
100 %
Ehlers-Danlos Syndrome Type IV , Deletions-Duplications (MLPA) COL3A1 Gene.

By Reference Laboratory Genetics in Spain.

COL3A1
Specificity
100 %
Genes
100 %
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

COL3A1, FBN1, COL5A1, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, MYH11
Specificity
12 %
Genes
100 %
Ehlers-Danlos Syndrome Type IV, Sequencing COL3A1 Gene.

By Reference Laboratory Genetics in Spain.

COL3A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, TNXB, CHST14, B3GALT6
Specificity
8 %
Genes
100 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL9A1, COL9A2, COL11A1, COL11A2, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos syndrome, type 4.

By Labor Dr. Wisplinghoff in Germany.

COL3A1
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Vascular Ehlers-Danlos Syndrome: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

COL3A1
Specificity
100 %
Genes
100 %
Vascular Ehlers-Danlos Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

COL3A1
Specificity
100 %
Genes
100 %
Heritable Thoracic Aortic Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11, TGFB3, PRKG1, MFAP5, MAT2A
Specificity
8 %
Genes
100 %

Alternate names

Aortic Aneurysm, Familial Abdominal, 1; Aaa1 Is also known as aneurysm, abdominal aortic;aaa, abdominal aortic aneurysm;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD MITCHELL-RILEY SYNDROME; MTCHRS LONG QT SYNDROME 3; LQT3 LISSENCEPHALY 8; LIS8 MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV DENTINOGENESIS IMPERFECTA 1; DGI1 WILSON DISEASE

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